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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

Term:congenital nervous system abnormality
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Accession:DOID:2490 term browser browse the term
Synonyms:exact_synonym: congenital neurologic anomaly
 xref: ICD9CM:742
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
congenital nervous system abnormality term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Eml1 EMAP like 1 ISS MouseDO NCBI chr 6:132,367,342...132,450,488
Ensembl chr 6:132,383,337...132,450,393
JBrowse link
agnathia-otocephaly complex term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Foxh1 forkhead box H1 ISS OMIM:202650 MouseDO NCBI chr 7:117,730,307...117,733,076
Ensembl chr 7:117,730,307...117,732,387
JBrowse link
G Prrx1 paired related homeobox 1 ISO ClinVar Annotator: match by term: Agnathia-otocephaly complex
ClinVar Annotator: match by term: Dysgnathia complex
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:202650
OMIM
ClinVar
CTD
PMID:12244557 PMID:21294718 PMID:22211708 PMID:22674740 PMID:23444262 PMID:25741868 NCBI chr13:81,147,038...81,215,559
Ensembl chr13:81,147,348...81,214,546
JBrowse link
G Trappc10 trafficking protein particle complex subunit 10 ISS OMIM:202650 MouseDO NCBI chr20:11,168,298...11,228,634
Ensembl chr20:11,168,298...11,228,625
JBrowse link
Al-Raqad Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dcps decapping enzyme, scavenger ISO ClinVar Annotator: match by term: AL-RAQAD SYNDROME OMIM
ClinVar
PMID:25701870 PMID:25712129 PMID:25741868 PMID:28492532 PMID:30289615 NCBI chr 8:36,321,992...36,374,665
Ensembl chr 8:36,321,993...36,374,673
JBrowse link
Amish Lethal Microcephaly term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc25a19 solute carrier family 25 member 19 ISO ClinVar Annotator: match by OMIM:607196
ClinVar Annotator: match by term: Amish lethal microcephaly
ClinVar
OMIM
PMID:12185364 PMID:18414213 PMID:19798730 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr10:104,166,594...104,179,523
Ensembl chr10:104,166,598...104,179,523
JBrowse link
anencephaly term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Alx1 ALX homeobox 1 ISO RGD PMID:8673125 RGD:734689 NCBI chr 7:44,751,865...44,771,458
Ensembl chr 7:44,751,873...44,771,458
JBrowse link
G Cecr2 CECR2, histone acetyl-lysine reader ISS OMIM:206500 MouseDO NCBI chr 4:153,217,521...153,327,153
Ensembl chr 4:153,217,782...153,322,564
JBrowse link
G Efna5 ephrin A5 ISS OMIM:206500 MouseDO NCBI chr 9:110,054,002...110,329,878
Ensembl chr 9:110,057,155...110,225,486
JBrowse link
G Lmo4 LIM domain only 4 ISS OMIM:206500 MouseDO NCBI chr 2:250,218,635...250,235,435
Ensembl chr 2:250,218,641...250,241,673
JBrowse link
G Mtrr 5-methyltetrahydrofolate-homocysteine methyltransferase reductase susceptibility ISO DNA:point mutation:intron:c.-26+755C>A (rs326119) (human) RGD PMID:26045171 RGD:11098877 NCBI chr 1:37,743,089...37,774,485
Ensembl chr 1:37,743,147...37,774,015
JBrowse link
G Rpgrip1l Rpgrip1-like ISO associated with Meckel Syndrome, Type 5;DNA:mutations:exons: RGD PMID:17558409 RGD:11073359 NCBI chr19:17,115,266...17,208,055
Ensembl chr19:17,115,412...17,208,055
JBrowse link
G Trim36 tripartite motif-containing 36 ISO ClinVar Annotator: match by term: Anencephalus ClinVar
OMIM
PMID:28087737 NCBI chr18:40,081,028...40,134,673
Ensembl chr18:40,082,442...40,134,504
JBrowse link
Asparagine Synthetase Deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Asns asparagine synthetase (glutamine-hydrolyzing) ISO ClinVar Annotator: match by term: Asparagine synthetase deficiency
ClinVar Annotator: match by OMIM:615574
OMIM
ClinVar
PMID:24139043 PMID:25741868 PMID:25758715 PMID:26395554 PMID:27469131 PMID:27522229 PMID:28492532 PMID:28776279 PMID:29279279 PMID:29375865 PMID:29405484 PMID:32255274 NCBI chr 4:33,742,876...33,761,106
Ensembl chr 4:33,743,364...33,761,163
JBrowse link
Baraitser-Winter syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Actb actin, beta ISS
ISO
OMIM:243310 | OMIM:614583
ClinVar Annotator: match by term: Cerebrofrontofacial syndrome
ClinVar Annotator: match by term: Baraitser-Winter syndrome
MouseDO
ClinVar
PMID:12325076 PMID:16685646 PMID:22366783 PMID:25052316 PMID:25741868 PMID:28492532 NCBI chr12:13,715,843...13,718,813
Ensembl chr12:13,715,843...13,718,841
JBrowse link
G Actg1 actin, gamma 1 ISS OMIM:243310 | OMIM:614583 MouseDO NCBI chr10:109,518,429...109,521,288
Ensembl chr 3:75,643,054...75,644,954
Ensembl chr10:75,643,054...75,644,954
JBrowse link
Baraitser-Winter Syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Actb actin, beta ISO ClinVar Annotator: match by term: CEREBROOCULOFACIAL LYMPHATIC SYNDROME
ClinVar Annotator: match by term: Baraitser-Winter syndrome 1
ClinVar Annotator: match by term: Iris coloboma with ptosis, hypertelorism, and mental retardation
ClinVar Annotator: match by OMIM:243310
OMIM
ClinVar
PMID:1415343 PMID:10327243 PMID:10411937 PMID:10928857 PMID:11311002 PMID:12325076 PMID:16685646 PMID:18414213 PMID:22366783 PMID:23649928 PMID:23756437 PMID:24033266 PMID:25052316 PMID:25156961 PMID:25741868 PMID:26467025 PMID:28492532 PMID:29220674 PMID:29261186 PMID:32860008 NCBI chr12:13,715,843...13,718,813
Ensembl chr12:13,715,843...13,718,841
JBrowse link
Baraitser-Winter Syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Actg1 actin, gamma 1 ISO ClinVar Annotator: match by term: Baraitser-Winter Syndrome 2
ClinVar Annotator: match by OMIM:614583
OMIM
ClinVar
PMID:3351890 PMID:18414213 PMID:22366783 PMID:24033266 PMID:25052316 PMID:25741868 NCBI chr10:109,518,429...109,521,288
Ensembl chr 3:75,643,054...75,644,954
Ensembl chr10:75,643,054...75,644,954
JBrowse link
Basel-Vanagaite-Smirin-Yosef syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Med25 mediator complex subunit 25 ISO ClinVar Annotator: match by term: Basel-Vanagaite-Smirin-Yosef syndrome ClinVar
OMIM
PMID:25488817 PMID:25741868 PMID:25792360 PMID:28492532 PMID:30039206 NCBI chr 1:100,872,240...100,887,864
Ensembl chr 1:100,874,976...100,887,853
JBrowse link
Beaulieu-Boycott-Innes Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Thoc6 THO complex 6 ISO ClinVar Annotator: match by term: Beaulieu-Boycott-Innes syndrome
ClinVar Annotator: match by OMIM:613680
OMIM
ClinVar
PMID:18414213 PMID:23621916 PMID:25741868 PMID:26739162 PMID:27102954 PMID:27295358 PMID:30238602 PMID:30476144 NCBI chr10:12,989,135...12,994,495
Ensembl chr10:12,989,135...12,994,495
JBrowse link
Bloom syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Blm BLM RecQ like helicase ISO ClinVar Annotator: match by term: Bloom syndrome
ClinVar Annotator: match by OMIM:210900
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
OMIM
PMID:2678854 PMID:7585968 PMID:9285778 PMID:9388480 PMID:9837821 PMID:9840919 PMID:10069810 PMID:10090915 PMID:10569803 PMID:10734115 PMID:10812332 PMID:10965492 PMID:11399766 PMID:12242432 PMID:12444098 PMID:15579905 PMID:15609317 PMID:15990871 PMID:16876111 PMID:17407155 PMID:17878217 PMID:18414213 PMID:18471088 PMID:19917125 PMID:20301572 PMID:21113733 PMID:21440839 PMID:21815139 PMID:22582397 PMID:22657828 PMID:22829774 PMID:22885301 PMID:23028338 PMID:23129629 PMID:23225144 PMID:23276657 PMID:23292937 PMID:23552953 PMID:23928670 PMID:24033266 PMID:24096176 PMID:24118499 PMID:24448499 PMID:24728327 PMID:24733792 PMID:24816114 PMID:24932421 PMID:25111073 PMID:25129257 PMID:25182961 PMID:25231023 PMID:25399228 PMID:25525159 PMID:25619955 PMID:25637381 PMID:25653542 PMID:25741868 PMID:25850943 PMID:26028025 PMID:26247052 PMID:26296701 PMID:26340805 PMID:26358404 PMID:26503572 PMID:26556299 PMID:26585945 PMID:26681682 PMID:26786923 PMID:26788541 PMID:26822949 PMID:27124789 PMID:27153395 PMID:27175728 PMID:27356891 PMID:27657136 PMID:27876123 PMID:27959697 PMID:28125078 PMID:28195393 PMID:28492532 PMID:28611551 PMID:28873162 PMID:28877996 PMID:29098565 PMID:29338689 PMID:29439820 PMID:29478780 PMID:29641532 PMID:29753700 PMID:29785153 PMID:30214240 PMID:30256826 PMID:30262796 PMID:30306255 PMID:30502717 PMID:30840646 PMID:30871259 PMID:30995915 PMID:31159747 PMID:31253795 PMID:31780696 PMID:32566746 PMID:32860008, PMID:10779560, PMID:9388480 RGD:1580056, RGD:1599420 NCBI chr 1:142,246,773...142,332,616
Ensembl chr 1:142,246,790...142,332,588
JBrowse link
G Fes FES proto-oncogene, tyrosine kinase ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:142,174,648...142,183,884
Ensembl chr 1:142,174,648...142,183,884
JBrowse link
G Furin furin (paired basic amino acid cleaving enzyme) ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:142,185,092...142,198,167
Ensembl chr 1:142,185,094...142,197,182
JBrowse link
G Hddc3 HD domain containing 3 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:142,136,428...142,138,737
Ensembl chr 1:142,136,452...142,138,737
JBrowse link
G Lig1 DNA ligase 1 ISO ClinVar Annotator: match by term: Dna ligase i deficiency ClinVar PMID:1351188 PMID:1581963 PMID:19223467 NCBI chr 1:75,356,212...75,394,757
Ensembl chr 1:75,356,220...75,394,758
JBrowse link
G Man2a2 mannosidase, alpha, class 2A, member 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:142,141,695...142,164,561
Ensembl chr 1:142,143,799...142,164,263
JBrowse link
G Nsmce2 NSE2/MMS21 homolog, SMC5-SMC6 complex SUMO ligase ISS OMIM:210900 MouseDO NCBI chr 7:99,677,295...99,900,765
Ensembl chr 7:99,677,290...99,900,764
JBrowse link
G Prc1 protein regulator of cytokinesis 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:142,087,181...142,108,746
Ensembl chr 1:142,087,208...142,108,746
JBrowse link
G Rccd1 RCC1 domain containing 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:142,109,066...142,118,452
Ensembl chr 1:142,109,252...142,114,634
JBrowse link
G Unc45a unc-45 myosin chaperone A ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:142,118,910...142,135,219
Ensembl chr 1:142,118,917...142,133,627
JBrowse link
G Ung uracil-DNA glycosylase ISO CTD Direct Evidence: marker/mechanism CTD PMID:2106500 NCBI chr12:48,246,593...48,255,547
Ensembl chr12:48,246,569...48,254,822
JBrowse link
Brain Small Vessel Disease 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col4a1 collagen type IV alpha 1 chain ISO ClinVar Annotator: match by term: Porencephaly 2
ClinVar Annotator: match by term: Acquired porencephaly
ClinVar PMID:18077766 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr16:83,522,162...83,632,153
Ensembl chr16:83,522,162...83,632,153
JBrowse link
G Col4a2 collagen type IV alpha 2 chain ISO ClinVar Annotator: match by term: Porencephaly 2
ClinVar Annotator: match by term: Acquired porencephaly
ClinVar Annotator: match by OMIM:614483
OMIM
ClinVar
PMID:22209246 PMID:22209247 PMID:22333902 PMID:22914737 PMID:24390199 PMID:24646874 PMID:25326635 PMID:25653287 PMID:25741868 PMID:26467025 PMID:28492532 PMID:30315939 NCBI chr16:83,386,388...83,522,169
Ensembl chr16:83,387,364...83,438,561
JBrowse link
G Plod1 procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1 ISO ClinVar Annotator: match by term: Acquired porencephaly ClinVar PMID:25741868 NCBI chr 5:164,720,629...164,747,071
Ensembl chr 5:164,720,587...164,747,083
JBrowse link
Cardiofacioneurodevelopmental Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccdc32 coiled-coil domain containing 32 ISO ClinVar Annotator: match by term: CARDIOFACIONEURODEVELOPMENTAL SYNDROME OMIM
ClinVar
PMID:32307552 NCBI chr 3:110,816,327...110,828,824
Ensembl chr 3:110,816,337...110,828,879
JBrowse link
Christianson syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cdkl5 cyclin-dependent kinase-like 5 ISO ClinVar Annotator: match by term: Angelman syndrome-like ClinVar PMID:15499549 PMID:16015284 PMID:16813600 PMID:18414213 PMID:19241098 PMID:19564592 PMID:20397747 PMID:20479760 PMID:21160487 PMID:21775177 PMID:22867051 PMID:23064044 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr  X:35,536,396...35,773,204
Ensembl chr  X:35,599,258...35,771,711
JBrowse link
G Hivep2 HIVEP zinc finger 2 ISO ClinVar Annotator: match by term: Angelman syndrome-like ClinVar PMID:25741868 NCBI chr 1:8,129,354...8,333,890
Ensembl chr 1:8,310,577...8,333,885
JBrowse link
G Rs1 retinoschisin 1 ISO ClinVar Annotator: match by term: Angelman syndrome-like ClinVar PMID:15499549 PMID:16813600 PMID:18414213 PMID:19241098 PMID:20479760 PMID:21160487 PMID:21775177 PMID:22867051 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr  X:35,749,957...35,777,243
Ensembl chr  X:35,749,957...35,777,243
JBrowse link
G Slc9a6 solute carrier family 9 member A6 ISO ClinVar Annotator: match by term: Christianson syndrome
ClinVar Annotator: match by term: X-linked mental retardation, syndromic, Christianson type
ClinVar Annotator: match by OMIM:300243
OMIM
ClinVar
PMID:10528855 PMID:18342287 PMID:18414213 PMID:19471312 PMID:19619532 PMID:20395263 PMID:25044251 PMID:25167861 PMID:25741868 PMID:26467025 PMID:27256868 PMID:28492532 PMID:32581362 PMID:32860008 NCBI chr  X:158,979,081...159,045,019
Ensembl chr  X:158,978,755...159,045,044
JBrowse link
CK syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nsdhl NAD(P) dependent steroid dehydrogenase-like ISO ClinVar Annotator: match by term: CK syndrome
ClinVar Annotator: match by OMIM:300831
OMIM
ClinVar
PMID:19377476 PMID:21129721 PMID:25741868 NCBI chr  X:152,933,118...152,964,399
Ensembl chr  X:152,933,069...152,964,390
JBrowse link
Classical Lissencephalies and Subcortical Band Heterotopias term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dcx doublecortin ISO ClinVar Annotator: match by term: Lissencephaly, X-linked
DNA:missense mutation:exon:p.A71S (211G>T) (human)
DNA:missense mutations: :multiple
DNA:missense mutation:exon:p.D262G (c.785A>G) (human)
ClinVar Annotator: match by OMIM:300067
OMIM
ClinVar
PMID:9489699 PMID:9489700 PMID:11468322 PMID:12552055 PMID:17111359 PMID:18414213 PMID:25326635 PMID:25741868 PMID:29706646 PMID:32238909, PMID:11071144, PMID:12838518, PMID:27292316 RGD:12904735, RGD:12904728, RGD:11568595 NCBI chr  X:115,098,675...115,175,515
Ensembl chr  X:115,098,675...115,175,299
JBrowse link
G Mnt MAX network transcriptional repressor ISO CTD Direct Evidence: marker/mechanism CTD PMID:15028671 NCBI chr10:61,683,776...61,700,504
Ensembl chr10:61,685,241...61,700,491
JBrowse link
G Pafah1b1 platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 ISO ClinVar Annotator: match by term: Lissencephaly/Subcortical Band Heterotopia
ClinVar Annotator: match by term: Type 1 lissencephaly
ClinVar Annotator: match by term: Lissencephaly classic
ClinVar PMID:9063735 PMID:9147889 PMID:10441340 PMID:10583396 PMID:11115846 PMID:11502906 PMID:12885786 PMID:14581661 PMID:15007136 PMID:17664403 PMID:18414213 PMID:19667223 PMID:24088041 PMID:25326635 PMID:25741868 PMID:26633545 PMID:27891766 PMID:32238909 NCBI chr10:61,456,144...61,577,412
Ensembl chr10:61,456,145...61,577,412
JBrowse link
cleft palate, cardiac defects, and intellectual disabillity term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Meis2 Meis homeobox 2 ISO ClinVar Annotator: match by term: Cleft palate, cardiac defects, and mental retardation ClinVar
OMIM
PMID:24678003 PMID:25741868 PMID:27225850 PMID:28492532 PMID:30291340 NCBI chr 3:107,560,172...107,762,732
Ensembl chr 3:107,559,997...107,760,589
JBrowse link
Cohen syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mir875 microRNA 875 ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:15141358 PMID:16648375 PMID:28492532 NCBI chr 7:74,423,233...74,423,305
Ensembl chr 7:74,423,233...74,423,305
JBrowse link
G Vps13b vacuolar protein sorting 13 homolog B ISO ClinVar Annotator: match by term: Cohen syndrome
ClinVar Annotator: match by term: Pepper syndrome
ClinVar Annotator: match by OMIM:216550
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:11169562 PMID:12730828 PMID:15141358 PMID:15154116 PMID:15173253 PMID:15211651 PMID:15498460 PMID:15691367 PMID:16648375 PMID:16917849 PMID:17383910 PMID:17786118 PMID:17990063 PMID:18414213 PMID:18655112 PMID:19006247 PMID:19190672 PMID:19533689 PMID:20461111 PMID:20656880 PMID:20683995 PMID:20921020 PMID:21330571 PMID:21659346 PMID:21865173 PMID:22382802 PMID:22527104 PMID:22855652 PMID:23033978 PMID:23188044 PMID:23352163 PMID:23757202 PMID:24033266 PMID:24311531 PMID:24334764 PMID:25326635 PMID:25356970 PMID:25472526 PMID:25502226 PMID:25525159 PMID:25533962 PMID:25741868 PMID:26133662 PMID:26395554 PMID:26443248 PMID:26467025 PMID:26938784 PMID:27175599 PMID:27353947 PMID:27380831 PMID:27533158 PMID:27829003 PMID:28041643 PMID:28341476 PMID:28492532 PMID:28631888 PMID:28832562 PMID:29431110 PMID:29453417 PMID:29706646 PMID:29758347 PMID:30138938 PMID:30602132 PMID:32860008 NCBI chr 7:74,118,834...74,722,341 JBrowse link
Congenital Muscular Dystrophy with Central Nervous System Involvement term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fktn fukutin ISO ClinVar Annotator: match by term: Muscular dystrophy, congenital, with central nervous system involvement ClinVar PMID:10545611 PMID:14627679 PMID:17044012 PMID:17559086 PMID:17878207 PMID:18177472 PMID:18414213 PMID:18752264 PMID:19015585 PMID:19179078 PMID:19266496 PMID:19299310 PMID:19396839 PMID:20961758 PMID:21102627 PMID:21228398 PMID:22037554 PMID:23582336 PMID:23757202 PMID:24033266 PMID:24144914 PMID:25741868 PMID:25821721 PMID:26130484 PMID:26467025 PMID:26923585 PMID:27065010 PMID:28492532 PMID:30060766 NCBI chr 5:70,522,001...70,578,270
Ensembl chr 5:70,528,688...70,578,273
JBrowse link
congenital muscular dystrophy-dystroglycanopathy A14 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gmppb GDP-mannose pyrophosphorylase B ISO ClinVar Annotator: match by term: Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A14
ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 14
ClinVar Annotator: match by term: Congenital Muscular Dystrophy-Dystroglycanopathy with Brain and Eye Anomalies Type A 14
ClinVar Annotator: match by OMIM:615350
OMIM
ClinVar
PMID:19901254 PMID:23768512 PMID:23894383 PMID:24033266 PMID:24780531 PMID:25326637 PMID:25681410 PMID:25741868 PMID:25770200 PMID:26133662 PMID:26310427 PMID:27147698 PMID:27527004 PMID:27766311 PMID:27874200 PMID:28433477 PMID:28478914 PMID:28492532 PMID:28554332 PMID:28877744 PMID:28914264 PMID:29437916 PMID:30060766 PMID:30257713 PMID:30684953 PMID:31211170 NCBI chr 8:116,826,251...116,856,159
Ensembl chr 8:116,826,680...116,856,159
JBrowse link
congenital muscular dystrophy-dystroglycanopathy A7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ankmy2 ankyrin repeat and MYND domain containing 2 ISO ClinVar Annotator: match by term: WALKER-WARBURG SYNDROME OR MUSCLE-EYE-BRAIN DISEASE, ISPD-RELATED ClinVar PMID:28492532 NCBI chr 6:55,646,905...55,689,223
Ensembl chr 6:55,648,021...55,689,218
JBrowse link
G Bzw2 basic leucine zipper and W2 domains 2 ISO ClinVar Annotator: match by term: WALKER-WARBURG SYNDROME OR MUSCLE-EYE-BRAIN DISEASE, ISPD-RELATED ClinVar PMID:28492532 NCBI chr 6:55,586,754...55,647,650
Ensembl chr 6:55,586,346...55,647,665
JBrowse link
G Crppa CDP-L-ribitol pyrophosphorylase A ISO ClinVar Annotator: match by term: Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A7
ClinVar Annotator: match by term: ISPD-Related Disorder
ClinVar Annotator: match by term: WALKER-WARBURG SYNDROME OR MUSCLE-EYE-BRAIN DISEASE, ISPD-RELATED
ClinVar Annotator: match by OMIM:614643
OMIM
ClinVar
PMID:2328832 PMID:2522420 PMID:7604843 PMID:9492098 PMID:10738921 PMID:18414213 PMID:22522420 PMID:22522421 PMID:23217329 PMID:23288328 PMID:23390185 PMID:24033266 PMID:24120487 PMID:25326635 PMID:25741868 PMID:26404900 PMID:26467025 PMID:27363342 PMID:28492532 PMID:28688748 PMID:28973083 PMID:29260090 PMID:29382405 NCBI chr 6:55,880,136...56,159,466
Ensembl chr 6:55,881,387...56,159,464
JBrowse link
G Lrrc72 leucine rich repeat containing 72 ISO ClinVar Annotator: match by term: WALKER-WARBURG SYNDROME OR MUSCLE-EYE-BRAIN DISEASE, ISPD-RELATED ClinVar PMID:28492532 NCBI chr 6:55,694,269...55,757,234
Ensembl chr 6:55,694,470...55,711,146
JBrowse link
G Sostdc1 sclerostin domain containing 1 ISO ClinVar Annotator: match by term: WALKER-WARBURG SYNDROME OR MUSCLE-EYE-BRAIN DISEASE, ISPD-RELATED ClinVar PMID:28492532 NCBI chr 6:55,812,820...55,816,994
Ensembl chr 6:55,812,747...55,817,066
JBrowse link
congenital muscular dystrophy-dystroglycanopathy type A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pomgnt1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) ISO ClinVar Annotator: match by term: Congenital muscular alpha-dystroglycanopathy with brain and eye anomalies ClinVar PMID:11709191 PMID:12588800 PMID:15466003 PMID:16427280 PMID:17559086 PMID:17878207 PMID:17881266 PMID:17906881 PMID:19299310 PMID:22323514 PMID:23326386 PMID:25741868 PMID:26013959 PMID:28492532 NCBI chr 5:135,007,343...135,017,220
Ensembl chr 5:135,007,343...135,017,218
JBrowse link
G Tspan1 tetraspanin 1 ISO ClinVar Annotator: match by term: Congenital muscular alpha-dystroglycanopathy with brain and eye anomalies ClinVar PMID:11709191 PMID:12588800 PMID:15466003 PMID:16427280 PMID:17559086 PMID:17878207 PMID:17881266 PMID:17906881 PMID:19299310 PMID:22323514 PMID:23326386 PMID:25741868 PMID:26013959 PMID:28492532 NCBI chr 5:135,019,206...135,032,412
Ensembl chr 5:135,019,778...135,025,084
JBrowse link
congenital muscular dystrophy-dystroglycanopathy type A1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G B4gat1 beta-1,4-glucuronyltransferase 1 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1 ClinVar PMID:23877401 PMID:25558065 NCBI chr 1:220,322,854...220,325,076
Ensembl chr 1:220,416,018...220,418,240
JBrowse link
G Dag1 dystroglycan 1 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 ClinVar PMID:25741868 NCBI chr 8:116,980,501...116,993,182
Ensembl chr 8:116,980,497...116,993,193
JBrowse link
G Fkrp fukutin related protein ISO
ISS
ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1
ClinVar Annotator: match by term: HARD syndrome
OMIM:236670
ClinVar
MouseDO
PMID:11592034 PMID:11741828 PMID:12471058 PMID:12654965 PMID:12666124 PMID:12707425 PMID:14647208 PMID:14652796 PMID:14742276 PMID:15060126 PMID:15121789 PMID:15574464 PMID:15580560 PMID:15833432 PMID:15886712 PMID:16368217 PMID:16476814 PMID:16634037 PMID:16786213 PMID:17336067 PMID:17554798 PMID:18036232 PMID:18060779 PMID:18414213 PMID:18593008 PMID:18639457 PMID:18671187 PMID:19155270 PMID:19820980 PMID:19835634 PMID:19900540 PMID:19955119 PMID:21220724 PMID:21228398 PMID:21296577 PMID:22264518 PMID:22981120 PMID:23420653 PMID:23576288 PMID:23591631 PMID:23800702 PMID:23894383 PMID:24033266 PMID:24447024 PMID:25048216 PMID:25135358 PMID:25560911 PMID:25741868 PMID:25987458 PMID:26363967 PMID:26467025 PMID:26574668 PMID:26833294 PMID:26923585 PMID:27439679 PMID:27848944 PMID:28454995 PMID:28492532 PMID:28931339 PMID:29065428 PMID:30003095 PMID:30564623 PMID:31041397 PMID:31671740 NCBI chr 1:78,733,461...78,740,803
Ensembl chr 1:78,733,508...78,739,107
JBrowse link
G Fktn fukutin ISO
ISS
ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1
ClinVar Annotator: match by term: HARD syndrome
OMIM:236670
ClinVar
MouseDO
PMID:10545611 PMID:14627679 PMID:17044012 PMID:17559086 PMID:17878207 PMID:18177472 PMID:18414213 PMID:18752264 PMID:19179078 PMID:19266496 PMID:19299310 PMID:19342235 PMID:19396839 PMID:20961758 PMID:21102627 PMID:21228398 PMID:22037554 PMID:23757202 PMID:24033266 PMID:24144914 PMID:25741868 PMID:25821721 PMID:26130484 PMID:26467025 PMID:26636822 PMID:26923585 PMID:27065010 PMID:28492532 PMID:28785732 PMID:30060766 NCBI chr 5:70,522,001...70,578,270
Ensembl chr 5:70,528,688...70,578,273
JBrowse link
G Large1 LARGE xylosyl- and glucuronyltransferase 1 ISS OMIM:236670 MouseDO NCBI chr19:12,481,563...12,945,320
Ensembl chr19:12,481,540...12,942,963
JBrowse link
G Pomt1 protein-O-mannosyltransferase 1 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1
ClinVar Annotator: match by term: HARD syndrome
ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1
ClinVar
OMIM
PMID:11320179 PMID:12369018 PMID:15037715 PMID:15637732 PMID:16575835 PMID:17559086 PMID:18414213 PMID:18513969 PMID:18640039 PMID:18752264 PMID:19222032 PMID:19299310 PMID:22323514 PMID:23757202 PMID:24304607 PMID:24491487 PMID:25326635 PMID:25741868 PMID:28116189 PMID:28492532 PMID:28556411 PMID:31319225 PMID:32860008 NCBI chr 3:11,253,424...11,271,873
Ensembl chr 3:11,254,026...11,271,872
JBrowse link
G Pomt2 protein-O-mannosyltransferase 2 ISO
ISS
ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1
OMIM:236670
ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1
ClinVar
MouseDO
PMID:17559086 PMID:17634419 PMID:17878207 PMID:17878297 PMID:19138766 PMID:19299310 PMID:24002165 PMID:25741868 PMID:26467025 PMID:27854218 PMID:28492532 NCBI chr 6:111,137,329...111,176,991
Ensembl chr 6:111,135,349...111,176,918
JBrowse link
congenital muscular dystrophy-dystroglycanopathy type A10 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rxylt1 ribitol xylosyltransferase 1 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 10
ClinVar Annotator: match by term: Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A10
OMIM
ClinVar
PMID:23217329 PMID:23519211 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 7:64,329,341...64,341,201
Ensembl chr 7:64,326,465...64,341,207
JBrowse link
congenital muscular dystrophy-dystroglycanopathy type A11 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G B3galnt2 beta-1,3-N-acetylgalactosaminyltransferase 2 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11
ClinVar Annotator: match by OMIM:615181
OMIM
ClinVar
PMID:23453667 PMID:25326635 PMID:25741868 PMID:28492532 PMID:29273094 PMID:29302074 NCBI chr17:54,027,859...54,070,399
Ensembl chr17:54,027,859...54,070,399
JBrowse link
G Tbce tubulin folding cofactor E ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 ClinVar PMID:23453667 PMID:28492532 NCBI chr17:53,983,126...54,029,028
Ensembl chr17:53,983,182...54,029,027
JBrowse link
congenital muscular dystrophy-dystroglycanopathy type A12 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fnta farnesyltransferase, CAAX box, alpha ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12 ClinVar PMID:28492532 NCBI chr16:70,834,957...70,854,724
Ensembl chr16:70,834,957...70,854,724
JBrowse link
G Hook3 hook microtubule-tethering protein 3 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12 ClinVar PMID:28492532 NCBI chr16:70,710,347...70,818,789 JBrowse link
G Pomk protein-O-mannose kinase ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12
ClinVar Annotator: match by OMIM:615249
OMIM
ClinVar
PMID:23519211 PMID:24556084 PMID:24925318 PMID:25741868 PMID:27879205 PMID:28492532 NCBI chr16:70,854,825...70,869,653
Ensembl chr16:70,859,280...70,869,634
JBrowse link
G Rnf170 ring finger protein 170 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12 ClinVar PMID:28492532 NCBI chr16:70,684,886...70,710,147
Ensembl chr16:70,687,487...70,705,128
JBrowse link
G Thap1 THAP domain containing 1 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12 ClinVar PMID:28492532 NCBI chr16:70,661,360...70,665,831
Ensembl chr16:70,661,320...70,665,831
JBrowse link
congenital muscular dystrophy-dystroglycanopathy type A13 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G B4gat1 beta-1,4-glucuronyltransferase 1 ISO ClinVar Annotator: match by term: WALKER-WARBURG SYNDROME OR MUSCLE-EYE-BRAIN DISEASE, B3GNT1-RELATED
ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 13
ClinVar
OMIM
PMID:23877401 PMID:25558065 PMID:25741868 PMID:28492532 NCBI chr 1:220,322,854...220,325,076
Ensembl chr 1:220,416,018...220,418,240
JBrowse link
congenital muscular dystrophy-dystroglycanopathy type A2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pomt2 protein-O-mannosyltransferase 2 ISO ClinVar Annotator: match by OMIM:613150
ClinVar Annotator: match by term: Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A2
ClinVar Annotator: match by term: WALKER-WARBURG SYNDROME OR MUSCLE-EYE-BRAIN DISEASE, POMT2-RELATED
ClinVar
OMIM
PMID:15894594 PMID:16701995 PMID:17559086 PMID:17634419 PMID:17869517 PMID:17878207 PMID:17878297 PMID:17923109 PMID:18414213 PMID:18513969 PMID:18752264 PMID:19138766 PMID:19299310 PMID:22323514 PMID:22958903 PMID:24002165 PMID:25267602 PMID:25741868 PMID:26467025 PMID:26495167 PMID:27854218 PMID:28492532 PMID:28973083 PMID:28980384 PMID:29175898 PMID:29382405 PMID:30060766 NCBI chr 6:111,137,329...111,176,991
Ensembl chr 6:111,135,349...111,176,918
JBrowse link
congenital muscular dystrophy-dystroglycanopathy type A3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pomgnt1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) ISO ClinVar Annotator: match by term: Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A3
ClinVar Annotator: match by term: WALKER-WARBURG SYNDROME OR MUSCLE-EYE-BRAIN DISEASE, POMGNT1-RELATED
ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3
ClinVar
OMIM
PMID:11709191 PMID:12588800 PMID:12788071 PMID:12849864 PMID:15236414 PMID:16427280 PMID:17030669 PMID:17559086 PMID:17906881 PMID:19299310 PMID:20215985 PMID:21361872 PMID:22323514 PMID:22522420 PMID:25390965 PMID:25741868 PMID:26467025 PMID:26908613 PMID:27493216 PMID:28492532 NCBI chr 5:135,007,343...135,017,220
Ensembl chr 5:135,007,343...135,017,218
JBrowse link
G Tspan1 tetraspanin 1 ISO ClinVar Annotator: match by term: Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A3
ClinVar Annotator: match by term: WALKER-WARBURG SYNDROME OR MUSCLE-EYE-BRAIN DISEASE, POMGNT1-RELATED
ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3
ClinVar PMID:11709191 PMID:12788071 PMID:12849864 PMID:15236414 PMID:16427280 PMID:17030669 PMID:17559086 PMID:17906881 PMID:19299310 PMID:20215985 PMID:21361872 PMID:22323514 PMID:22522420 PMID:25390965 PMID:25741868 PMID:26467025 PMID:27493216 PMID:28492532 NCBI chr 5:135,019,206...135,032,412
Ensembl chr 5:135,019,778...135,025,084
JBrowse link
congenital muscular dystrophy-dystroglycanopathy type A5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fkrp fukutin related protein ISO ClinVar Annotator: match by term: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 5
ClinVar Annotator: match by term: WALKER-WARBURG SYNDROME OR MUSCLE-EYE-BRAIN DISEASE, FKRP-RELATED
ClinVar Annotator: match by OMIM:613153
OMIM
ClinVar
PMID:11592034 PMID:11741828 PMID:12471058 PMID:12666124 PMID:14647208 PMID:15060126 PMID:15121789 PMID:15574464 PMID:15580560 PMID:15833432 PMID:15886712 PMID:16368217 PMID:16476814 PMID:16634037 PMID:16786213 PMID:17554798 PMID:18060779 PMID:18414213 PMID:18593008 PMID:18639457 PMID:19155270 PMID:19820980 PMID:19835634 PMID:19900540 PMID:20236121 PMID:21220724 PMID:21228398 PMID:22264518 PMID:22981120 PMID:23576288 PMID:23591631 PMID:24033266 PMID:24447024 PMID:25048216 PMID:25560911 PMID:25741868 PMID:26363967 PMID:26467025 PMID:26574668 PMID:26833294 PMID:26923585 PMID:27439679 PMID:28492532 NCBI chr 1:78,733,461...78,740,803
Ensembl chr 1:78,733,508...78,739,107
JBrowse link
congenital muscular dystrophy-dystroglycanopathy type A6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Large1 LARGE xylosyl- and glucuronyltransferase 1 ISO ClinVar Annotator: match by OMIM:613154
ClinVar Annotator: match by term: Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A6
ClinVar Annotator: match by term: WALKER-WARBURG SYNDROME OR MUSCLE-EYE-BRAIN DISEASE, LARGE-RELATED
ClinVar
OMIM
PMID:17436019 PMID:17878207 PMID:18414213 PMID:19067344 PMID:19299310 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr19:12,481,563...12,945,320
Ensembl chr19:12,481,540...12,942,963
JBrowse link
congenital muscular dystrophy-dystroglycanopathy type A8 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pomgnt2 protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-) ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8
ClinVar Annotator: match by OMIM:614830
OMIM
ClinVar
PMID:18414213 PMID:22958903 PMID:25558065 PMID:25741868 PMID:26467025 PMID:27066570 PMID:28492532 NCBI chr 8:130,615,482...130,631,144
Ensembl chr 8:130,615,711...130,617,833
JBrowse link
congenital muscular dystrophy-dystroglycanopathy type A9 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dag1 dystroglycan 1 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 9 ClinVar
OMIM
PMID:24052401 PMID:25741868 PMID:25934851 PMID:26467025 PMID:28492532 PMID:29134705 NCBI chr 8:116,980,501...116,993,182
Ensembl chr 8:116,980,497...116,993,193
JBrowse link
Diencephalic-Mesencephalic Junction Dysplasia Syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dele1 DAP3 binding cell death enhancer 1 ISO ClinVar Annotator: match by term: Diencephalic-mesencephalic junction dysplasia syndrome 1 ClinVar PMID:25741868 NCBI chr18:31,396,897...31,409,914
Ensembl chr18:31,396,922...31,409,907
JBrowse link
G Pcdh12 protocadherin 12 ISO ClinVar Annotator: match by term: Diencephalic-mesencephalic junction dysplasia syndrome 1 OMIM
ClinVar
PMID:7774041 PMID:22822038 PMID:25741868 PMID:27164683 PMID:30178464 NCBI chr18:31,415,533...31,431,108
Ensembl chr18:31,414,250...31,430,973
JBrowse link
Feingold syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mycn MYCN proto-oncogene, bHLH transcription factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:19852433 PMID:21532573 NCBI chr 6:38,222,554...38,228,419
Ensembl chr 6:38,222,555...38,228,379
JBrowse link
Feingold Syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mycn MYCN proto-oncogene, bHLH transcription factor ISO ClinVar Annotator: match by term: Feingold syndrome 1 ClinVar
OMIM
PMID:15821734 PMID:16906565 PMID:18470948 PMID:18671284 PMID:20301770 PMID:25741868 NCBI chr 6:38,222,554...38,228,419
Ensembl chr 6:38,222,555...38,228,379
JBrowse link
Filippi syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ckap2l cytoskeleton associated protein 2-like ISO ClinVar Annotator: match by term: Filippi syndrome ClinVar
OMIM
PMID:8867657 PMID:15365457 PMID:18553552 PMID:25439729 PMID:25741868 NCBI chr 3:121,796,221...121,822,352
Ensembl chr 3:121,796,238...121,822,436
JBrowse link
Folate-Sensitive Neural Tube Defects term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC102551309 uncharacterized LOC102551309 ISO ClinVar Annotator: match by term: Neural tube defects, folate-sensitive ClinVar NCBI chr 5:164,875,558...164,885,606
Ensembl chr 5:164,874,832...164,883,933
JBrowse link
G Mthfd1 methylenetetrahydrofolate dehydrogenase, cyclohydrolase and formyltetrahydrofolate synthetase 1 ISO ClinVar Annotator: match by term: Neural tube defects, folate-sensitive, susceptibility to
ClinVar Annotator: match by term: Spina bifida, folate-sensitive, susceptibility to
OMIM
ClinVar
PMID:15633187 PMID:16315005 PMID:16552426 PMID:17894836 PMID:18277167 PMID:24033266 PMID:28492532 NCBI chr 6:99,282,850...99,350,367
Ensembl chr 6:99,282,850...99,350,340
JBrowse link
G Mthfr methylenetetrahydrofolate reductase ISO ClinVar Annotator: match by term: Neural tube defects, folate-sensitive
ClinVar Annotator: match by OMIM:601634
OMIM
ClinVar
PMID:1522835 PMID:7564788 PMID:7647779 PMID:7741859 PMID:8542260 PMID:8554053 PMID:8554066 PMID:8616944 PMID:8771990 PMID:8826441 PMID:8837319 PMID:8892013 PMID:8903338 PMID:8981967 PMID:8994411 PMID:9133512 PMID:9192280 PMID:9244205 PMID:9341863 PMID:9372726 PMID:9453374 PMID:9545395 PMID:9545406 PMID:9737770 PMID:9789068 PMID:9798595 PMID:9843036 PMID:9863598 PMID:10196703 PMID:10323741 PMID:10440833 PMID:10677336 PMID:10732818 PMID:10869114 PMID:10930360 PMID:10958762 PMID:11121176 PMID:11140843 PMID:11418485 PMID:11590551 PMID:11742092 PMID:11752418 PMID:11781870 PMID:11807890 PMID:11863127 PMID:11888585 PMID:11929966 PMID:11938441 PMID:12080391 PMID:12095808 PMID:12154064 PMID:12165282 PMID:12196644 PMID:12221667 PMID:12356947 PMID:12383688 PMID:12384649 PMID:12387655 PMID:12400059 PMID:12406076 PMID:12428084 PMID:12453860 PMID:12529699 PMID:12560871 PMID:12733064 PMID:12796225 PMID:12915598 PMID:14647408 PMID:15051775 PMID:15054400 PMID:15103709 PMID:15154859 PMID:15173232 PMID:15534175 PMID:15543147 PMID:15565101 PMID:15704130 PMID:15729744 PMID:15781665 PMID:15806605 PMID:15808177 PMID:15951337 PMID:16013960 PMID:16019535 PMID:16172608 PMID:16244782 PMID:16365871 PMID:16402130 PMID:16432849 PMID:16462575 PMID:16463153 PMID:16470725 PMID:16501586 PMID:16712703 PMID:16800002 PMID:16870553 PMID:17180579 PMID:17284634 PMID:17323057 PMID:17350979 PMID:17436239 PMID:17488658 PMID:17512587 PMID:17543893 PMID:17726486 PMID:17898028 PMID:18458567 PMID:18523009 PMID:18583979 PMID:18704422 PMID:18987660 PMID:19159907 PMID:19307503 PMID:19648163 PMID:20154341 PMID:20356773 PMID:20638924 PMID:21605004 PMID:21644011 PMID:21747412 PMID:22143415 PMID:22838948 PMID:22992668 PMID:23089671 PMID:23488607 PMID:23648444 PMID:23775025 PMID:24241962 PMID:24637499 PMID:25007187 PMID:25065700 PMID:25110820 PMID:25227144 PMID:25303299 PMID:25741868 PMID:25778468 PMID:26014925 PMID:27399166 PMID:28492532 PMID:28696419 PMID:29683944 NCBI chr 5:164,844,642...164,864,360
Ensembl chr 5:164,845,925...164,860,910
JBrowse link
G Mtr 5-methyltetrahydrofolate-homocysteine methyltransferase ISO ClinVar Annotator: match by term: Neural tube defects, folate-sensitive, susceptibility to OMIM
ClinVar
PMID:8968737 PMID:9013615 PMID:10323741 PMID:12154064 PMID:12375236 PMID:12923861 PMID:25227144 NCBI chr17:66,210,444...66,295,014
Ensembl chr17:66,210,461...66,295,014
JBrowse link
G Mtrr 5-methyltetrahydrofolate-homocysteine methyltransferase reductase ISO ClinVar Annotator: match by term: Neural tube defects, folate-sensitive, susceptibility to OMIM
ClinVar
PMID:9501215 PMID:10444342 PMID:10500018 PMID:10930360 PMID:12375236 PMID:12923861 PMID:15797993 PMID:15979034 PMID:16013960 PMID:18368069 PMID:22992668 PMID:25227144 PMID:25741868 NCBI chr 1:37,743,089...37,774,485
Ensembl chr 1:37,743,147...37,774,015
JBrowse link
Fukuyama congenital muscular dystrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dag1 dystroglycan 1 ISO protein:decreased expression:brain, heart, skeletal muscle RGD PMID:11445638 RGD:11537476 NCBI chr 8:116,980,501...116,993,182
Ensembl chr 8:116,980,497...116,993,193
JBrowse link
G Fkrp fukutin related protein ISO ClinVar Annotator: match by term: Fukuyama congenital muscular dystrophy ClinVar NCBI chr 1:78,733,461...78,740,803
Ensembl chr 1:78,733,508...78,739,107
JBrowse link
G Fktn fukutin ISO ClinVar Annotator: match by term: Fukuyama congenital muscular dystrophy
ClinVar Annotator: match by term: Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A4
ClinVar Annotator: match by term: WALKER-WARBURG SYNDROME OR MUSCLE-EYE-BRAIN DISEASE, FKTN-RELATED
ClinVar Annotator: match by term: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 4
OMIM
ClinVar
PMID:9690476 PMID:10545611 PMID:11153909 PMID:11165248 PMID:12601708 PMID:14627679 PMID:15103718 PMID:16222679 PMID:17034757 PMID:17036286 PMID:17044012 PMID:17559086 PMID:17597323 PMID:17878207 PMID:18177472 PMID:18414213 PMID:18752264 PMID:19015585 PMID:19179078 PMID:19266496 PMID:19299310 PMID:19342235 PMID:19396839 PMID:19842201 PMID:20620061 PMID:20961758 PMID:21102627 PMID:21228398 PMID:22037554 PMID:22275357 PMID:22958903 PMID:23582336 PMID:23757202 PMID:24033266 PMID:24144914 PMID:25741868 PMID:25814170 PMID:25821721 PMID:26130484 PMID:26467025 PMID:26809617 PMID:26923585 PMID:27065010 PMID:27124789 PMID:28492532 PMID:28680109 PMID:28688748 PMID:28759667 PMID:30060766, PMID:11445638 RGD:11537476 NCBI chr 5:70,522,001...70,578,270
Ensembl chr 5:70,528,688...70,578,273
JBrowse link
Galloway-Mowat syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lage3 L antigen family, member 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28805828 NCBI chr  X:156,355,376...156,356,799
Ensembl chr  X:156,355,376...156,356,799
JBrowse link
G Osgep O-sialoglycoprotein endopeptidase ISO CTD Direct Evidence: marker/mechanism CTD PMID:28805828 NCBI chr15:27,842,447...27,849,866
Ensembl chr15:27,842,422...27,849,974
JBrowse link
G Tp53rk TP53 regulating kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:28805828 NCBI chr 3:163,552,166...163,555,925
Ensembl chr 3:163,552,166...163,555,596
JBrowse link
G Tprkb Tp53rk binding protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:28805828 NCBI chr 4:117,589,527...117,604,481
Ensembl chr 4:117,780,533...117,785,941
Ensembl chr 4:117,780,533...117,785,941
JBrowse link
G Wdr4 WD repeat domain 4 ISO ClinVar Annotator: match by term: Galloway-Mowat syndrome ClinVar PMID:25741868 PMID:30079490 NCBI chr20:10,240,571...10,264,818
Ensembl chr20:10,239,154...10,257,044
JBrowse link
G Wdr73 WD repeat domain 73 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25466283 NCBI chr 1:142,711,955...142,720,292
Ensembl chr 1:142,711,789...142,720,257
JBrowse link
G Zfp592 zinc finger protein 592 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20531441 NCBI chr 1:142,833,999...142,870,997
Ensembl chr 1:142,834,157...142,870,995
JBrowse link
Galloway-Mowat syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Eng endoglin ISO ClinVar Annotator: match by term: Galloway-Mowat syndrome 1 ClinVar PMID:12673790 PMID:15879500 PMID:21158752 PMID:23399955 PMID:24055113 PMID:25637381 PMID:25741868 PMID:28492532 NCBI chr 3:11,679,530...11,717,486
Ensembl chr 3:11,679,530...11,717,485
JBrowse link
G Wdr73 WD repeat domain 73 ISO ClinVar Annotator: match by term: Galloway-Mowat syndrome 1 OMIM
ClinVar
PMID:11391656 PMID:12030328 PMID:16217710 PMID:20531441 PMID:25466283 PMID:25741868 PMID:25873735 PMID:26070982 PMID:26123727 PMID:30315938 NCBI chr 1:142,711,955...142,720,292
Ensembl chr 1:142,711,789...142,720,257
JBrowse link
G Zfp592 zinc finger protein 592 ISO ClinVar Annotator: match by term: Galloway-Mowat syndrome 1
ClinVar Annotator: match by term: Spinocerebellar ataxia autosomal recessive 5
ClinVar PMID:12030328 PMID:20531441 PMID:25741868 PMID:26123727 NCBI chr 1:142,833,999...142,870,997
Ensembl chr 1:142,834,157...142,870,995
JBrowse link
Galloway-Mowat syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lage3 L antigen family, member 3 ISO ClinVar Annotator: match by term: GALLOWAY-MOWAT SYNDROME 2, X-LINKED ClinVar
OMIM
PMID:12693786 PMID:28805828 NCBI chr  X:156,355,376...156,356,799
Ensembl chr  X:156,355,376...156,356,799
JBrowse link
Galloway-Mowat syndrome 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Osgep O-sialoglycoprotein endopeptidase ISO ClinVar Annotator: match by term: GALLOWAY-MOWAT SYNDROME 3
ClinVar Annotator: match by term: Galloway-Mowat syndrome 3
ClinVar
OMIM
PMID:11519896 PMID:15966048 PMID:17897280 PMID:18019379 PMID:21791310 PMID:25741868 PMID:28272532 PMID:28805828 NCBI chr15:27,842,447...27,849,866
Ensembl chr15:27,842,422...27,849,974
JBrowse link
Galloway-Mowat syndrome 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tp53rk TP53 regulating kinase ISO ClinVar Annotator: match by term: GALLOWAY-MOWAT SYNDROME 4 ClinVar
OMIM
PMID:28805828 NCBI chr 3:163,552,166...163,555,925
Ensembl chr 3:163,552,166...163,555,596
JBrowse link
Galloway-Mowat syndrome 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tprkb Tp53rk binding protein ISO ClinVar Annotator: match by term: GALLOWAY-MOWAT SYNDROME 5 ClinVar
OMIM
PMID:28805828 NCBI chr 4:117,589,527...117,604,481
Ensembl chr 4:117,780,533...117,785,941
Ensembl chr 4:117,780,533...117,785,941
JBrowse link
Galloway-Mowat Syndrome 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Wdr4 WD repeat domain 4 ISO ClinVar Annotator: match by term: Galloway-Mowat syndrome 6
ClinVar Annotator: match by term: GALLOWAY-MOWAT SYNDROME 6
OMIM
ClinVar
PMID:25741868 PMID:26416026 PMID:28617965 PMID:29597095 PMID:30079490 NCBI chr20:10,240,571...10,264,818
Ensembl chr20:10,239,154...10,257,044
JBrowse link
Galloway-Mowat Syndrome 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nup107 nucleoporin 107 ISO ClinVar Annotator: match by term: GALLOWAY-MOWAT SYNDROME 7 OMIM
ClinVar
PMID:25558065 PMID:25741868 PMID:28117080 PMID:28280135 PMID:30179222 NCBI chr 7:60,781,724...60,825,225
Ensembl chr 7:60,781,729...60,825,242
JBrowse link
Galloway-Mowat Syndrome 8 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nup133 nucleoporin 133 ISO ClinVar Annotator: match by term: GALLOWAY-MOWAT SYNDROME 8 OMIM
ClinVar
PMID:11793129 PMID:30427554 NCBI chr19:56,681,965...56,731,404
Ensembl chr19:56,681,979...56,731,372
JBrowse link
Growth Deficiency and Mental Retardation with Facial Dysmorphism term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Arid1b AT-rich interaction domain 1B ISO ClinVar Annotator: match by term: Wiedemann-Steiner syndrome ClinVar NCBI chr 1:45,923,119...46,232,301
Ensembl chr 1:45,923,222...46,234,874
JBrowse link
G Chd7 chromodomain helicase DNA binding protein 7 ISO ClinVar Annotator: match by term: Wiedemann-Steiner syndrome ClinVar NCBI chr 5:21,769,087...21,952,036
Ensembl chr 5:21,830,882...21,950,696
JBrowse link
G Kmt2a lysine methyltransferase 2A ISO ClinVar Annotator: match by term: Wiedemann-Steiner syndrome
ClinVar Annotator: match by OMIM:605130
OMIM
ClinVar
PMID:18414213 PMID:22795537 PMID:24088041 PMID:25326635 PMID:25326637 PMID:25356970 PMID:25724810 PMID:25741868 PMID:25741869 PMID:25810209 PMID:26633545 PMID:27441994 PMID:27959697 PMID:28330790 PMID:28600779 PMID:29255178 PMID:29574747 PMID:32860008 NCBI chr 8:49,110,407...49,185,872
Ensembl chr 8:49,114,990...49,158,971
JBrowse link
G Smc1a structural maintenance of chromosomes 1A ISO ClinVar Annotator: match by term: Growth deficiency and mental retardation with facial dysmorphism ClinVar PMID:25574841 NCBI chr  X:21,710,976...21,755,708
Ensembl chr  X:21,711,019...21,755,525
JBrowse link
Heyn-Sproul-Jackson Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dnmt3a DNA methyltransferase 3 alpha ISO ClinVar Annotator: match by term: HEYN-SPROUL-JACKSON SYNDROME ClinVar
OMIM
PMID:30478443 NCBI chr 6:28,205,375...28,346,052
Ensembl chr 6:28,235,695...28,340,577
JBrowse link
holoprosencephaly term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Boc BOC cell adhesion associated, oncogene regulated ISO ClinVar Annotator: match by term: Holoprosencephaly ClinVar PMID:28677295 NCBI chr11:61,084,216...61,159,220
Ensembl chr11:61,083,757...61,158,838
JBrowse link
G Cdon cell adhesion associated, oncogene regulated ISO ClinVar Annotator: match by term: Holoprosencephaly ClinVar NCBI chr 8:36,625,757...36,712,091
Ensembl chr 8:36,625,733...36,710,949
JBrowse link
G Cnot1 CCR4-NOT transcription complex, subunit 1 ISO ClinVar Annotator: match by term: Holoprosencephaly sequence ClinVar PMID:25741868 PMID:28525974 PMID:31006510 PMID:31006513 PMID:32553196 NCBI chr19:9,668,186...9,761,605
Ensembl chr19:9,668,186...9,761,605
JBrowse link
G Creb1 cAMP responsive element binding protein 1 ISO protein:increased localization: prechordal mesoderm, nucleus RGD PMID:18338389 RGD:12801437 NCBI chr 9:71,229,753...71,298,994
Ensembl chr 9:71,230,108...71,293,435
JBrowse link
G Disp1 dispatched RND transporter family member 1 ISO ClinVar Annotator: match by term: Lobar holoprosencephaly
ClinVar Annotator: match by term: Holoprosencephaly
ClinVar PMID:25741868 NCBI chr13:101,451,932...101,597,570
Ensembl chr13:101,451,932...101,597,570
JBrowse link
G Dll1 delta like canonical Notch ligand 1 ISO ClinVar Annotator: match by term: Holoprosencephaly
ClinVar Annotator: match by term: Holoprosencephaly sequence
ClinVar PMID:28492532 NCBI chr 1:57,318,621...57,326,732
Ensembl chr 1:57,318,708...57,327,379
JBrowse link
G Fgf8 fibroblast growth factor 8 ISO ClinVar Annotator: match by term: Semilobar holoprosencephaly
ClinVar Annotator: match by term: Holoprosencephaly sequence
ClinVar PMID:20463092 PMID:22399515 PMID:25131394 PMID:25741868 PMID:26467025 PMID:26857713 PMID:26931467 PMID:28492532 PMID:29584859 NCBI chr 1:265,492,949...265,498,965
Ensembl chr 1:265,493,124...265,498,831
JBrowse link
G Fgfr1 Fibroblast growth factor receptor 1 ISO ClinVar Annotator: match by term: Semilobar holoprosencephaly
ClinVar Annotator: match by term: Holoprosencephaly
ClinVar PMID:26931467 NCBI chr16:71,265,390...71,319,046
Ensembl chr16:71,266,248...71,319,449
JBrowse link
G Foxh1 forkhead box H1 ISO ClinVar Annotator: match by term: Holoprosencephaly
ClinVar Annotator: match by term: Holoprosencephaly sequence
ClinVar PMID:18538293 PMID:25741868 PMID:28492532 NCBI chr 7:117,730,307...117,733,076
Ensembl chr 7:117,730,307...117,732,387
JBrowse link
G Gas1 growth arrest-specific 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17525797 NCBI chr17:4,846,116...4,849,350
Ensembl chr17:4,846,789...4,847,940
JBrowse link
G Gli2 GLI family zinc finger 2 ISO ClinVar Annotator: match by term: microform holoprosencephaly
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:27585885 NCBI chr13:34,829,021...35,049,172
Ensembl chr13:34,829,139...35,048,444
JBrowse link
G Kifc2 kinesin family member C2 ISO ClinVar Annotator: match by term: Holoprosencephaly ClinVar NCBI chr 7:117,722,732...117,730,702
Ensembl chr 7:117,723,263...117,730,702
JBrowse link
G Lama5 laminin subunit alpha 5 ISO ClinVar Annotator: match by term: Holoprosencephaly sequence ClinVar PMID:25741868 PMID:28735299 PMID:29534211 PMID:31680349 NCBI chr 3:175,553,042...175,601,112
Ensembl chr 3:175,553,045...175,601,127
JBrowse link
G Matn4 matrilin 4 ISO ClinVar Annotator: match by term: DEMYER SEQUENCE ClinVar PMID:25558065 NCBI chr 3:160,838,632...160,853,650
Ensembl chr 3:160,838,632...160,853,650
JBrowse link
G Nodal nodal growth differentiation factor ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Holoprosencephaly sequence
CTD
ClinVar
PMID:19064609 PMID:19553149 PMID:22352765 PMID:23264560 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr20:31,035,729...31,044,096
Ensembl chr20:31,035,729...31,044,096
JBrowse link
G Pgap1 post-GPI attachment to proteins inositol deacylase 1 ISS MouseDO NCBI chr 9:61,066,170...61,134,963
Ensembl chr 9:61,066,175...61,134,963
JBrowse link
G Pign phosphatidylinositol glycan anchor biosynthesis, class N ISS MouseDO NCBI chr13:25,510,593...25,662,943
Ensembl chr13:25,513,892...25,652,473
JBrowse link
G Ptch1 patched 1 ISO ClinVar Annotator: match by term: Holoprosencephaly
ClinVar Annotator: match by term: Holoprosencephaly sequence
DNA:missense mutations:exon:multiple
ClinVar PMID:8302318 PMID:11941477 PMID:17001668 PMID:21188540 PMID:22703879 PMID:22820256 PMID:24055113 PMID:24728327 PMID:25637381 PMID:26489027 PMID:26893459 PMID:27153395 PMID:28492532, PMID:11941477 RGD:12798567 NCBI chr17:1,032,242...1,085,885
Ensembl chr17:1,029,048...1,093,873
JBrowse link
G Shh sonic hedgehog signaling molecule treatment ISO DNA:mutations:cds:multiple (human)
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Holoprosencephaly
DNA:missense mutation:CDS:p.V88D (263A>T) (human)
DNA:missense mutations, non-sense mutation:exon:multiple
CTD
ClinVar
PMID:15107988 PMID:17525797 PMID:23264560 PMID:27585885 PMID:29584859 PMID:31642701, PMID:8896572, PMID:18338389, PMID:11919111, PMID:10441331 RGD:9743971, RGD:12801437, RGD:12801425, RGD:12798570 NCBI chr 4:718,538...727,691
Ensembl chr 4:718,538...727,691
JBrowse link
G Six3 SIX homeobox 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:10369266, PMID:10369266, PMID:15523651 RGD:1599336, RGD:1599335 NCBI chr 6:8,886,730...8,891,094
Ensembl chr 6:8,886,591...8,889,925
JBrowse link
G Sufu SUFU negative regulator of hedgehog signaling ISO ClinVar Annotator: match by term: microform holoprosencephaly ClinVar PMID:24728327 PMID:27363716 PMID:28492532 NCBI chr 1:266,143,766...266,241,742
Ensembl chr 1:266,143,818...266,239,016
JBrowse link
G Tdgf1 teratocarcinoma-derived growth factor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12073012 NCBI chr 8:119,215,266...119,220,909
Ensembl chr 8:119,215,495...119,219,232
JBrowse link
G Tgif1 TGFB-induced factor homeobox 1 ISO holoprosencephaly-4, OMIM:142946
ClinVar Annotator: match by term: Holoprosencephaly
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:16705179 PMID:25741868 PMID:28492532, PMID:10835638 RGD:1599407 NCBI chr 9:119,181,079...119,190,698
Ensembl chr 9:119,181,083...119,190,698
JBrowse link
G Twsg1 twisted gastrulation BMP signaling modulator 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15013800 NCBI chr 9:113,699,151...113,732,601
Ensembl chr 9:113,699,170...113,732,622
JBrowse link
G Zic2 Zic family member 2 ISO ClinVar Annotator: match by term: Holoprosencephaly sequence
DNA:insertion,deletion mutations:cds:
DNA:deletion, duplication, frameshift, transition mutations:cds,intron:
ClinVar PMID:25741868, PMID:18617531, PMID:9771712, PMID:22847929 RGD:11561948, RGD:11561954, RGD:11561949 NCBI chr15:108,908,366...108,913,812
Ensembl chr15:108,908,607...108,912,737
JBrowse link
G Zrsr2 zinc finger (CCCH type), RNA binding motif and serine/arginine rich 2 ISO ClinVar Annotator: match by term: Holoprosencephaly sequence ClinVar PMID:25679214 PMID:25741868 PMID:31680349 NCBI chr  X:32,304,707...32,327,419
Ensembl chr  X:32,304,757...32,328,364
JBrowse link
holoprosencephaly 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cdon cell adhesion associated, oncogene regulated ISO ClinVar Annotator: match by term: Holoprosencephaly 1 ClinVar PMID:25741868 NCBI chr 8:36,625,757...36,712,091
Ensembl chr 8:36,625,733...36,710,949
JBrowse link
G Fgf8 fibroblast growth factor 8 ISO ClinVar Annotator: match by term: Holoprosencephaly 1 ClinVar PMID:18596921 PMID:21045958 NCBI chr 1:265,492,949...265,498,965
Ensembl chr 1:265,493,124...265,498,831
JBrowse link
G Gas1 growth arrest-specific 1 ISO ClinVar Annotator: match by term: Holoprosencephaly 1 ClinVar PMID:20583177 PMID:21842183 NCBI chr17:4,846,116...4,849,350
Ensembl chr17:4,846,789...4,847,940
JBrowse link
G Gli2 GLI family zinc finger 2 ISO ClinVar Annotator: match by term: Holoprosencephaly 1 ClinVar PMID:25741868 NCBI chr13:34,829,021...35,049,172
Ensembl chr13:34,829,139...35,048,444
JBrowse link
G Zic2 Zic family member 2 ISO ClinVar Annotator: match by term: Holoprosencephaly 1 ClinVar PMID:22859937 NCBI chr15:108,908,366...108,913,812
Ensembl chr15:108,908,607...108,912,737
JBrowse link
holoprosencephaly 11 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cdon cell adhesion associated, oncogene regulated ISO ClinVar Annotator: match by term: Holoprosencephaly 11
ClinVar Annotator: match by OMIM:614226
OMIM
ClinVar
PMID:21802063 PMID:25741868 PMID:28492532 NCBI chr 8:36,625,757...36,712,091
Ensembl chr 8:36,625,733...36,710,949
JBrowse link
Holoprosencephaly 12 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cnot1 CCR4-NOT transcription complex, subunit 1 ISO ClinVar Annotator: match by term: HOLOPROSENCEPHALY 12 WITH OR WITHOUT PANCREATIC AGENESIS OMIM
ClinVar
PMID:25741868 PMID:28525974 PMID:31006510 PMID:31006513 PMID:32553196 NCBI chr19:9,668,186...9,761,605
Ensembl chr19:9,668,186...9,761,605
JBrowse link
Holoprosencephaly 13 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Stag2 stromal antigen 2 ISO ClinVar Annotator: match by term: HOLOPROSENCEPHALY 13, X-LINKED OMIM
ClinVar
PMID:28296084 PMID:31334757 NCBI chr  X:128,493,603...128,624,418
Ensembl chr  X:128,493,614...128,624,418
JBrowse link
holoprosencephaly 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Six3 SIX homeobox 3 ISO ClinVar Annotator: match by term: Holoprosencephaly 2
ClinVar Annotator: match by OMIM:157170
OMIM
ClinVar
PMID:10369266 PMID:10923031 PMID:11039582 PMID:15221788 PMID:15523651 PMID:17001667 PMID:17584896 PMID:18791198 PMID:18989625 PMID:19346217 PMID:19353631 PMID:20157829 PMID:20531442 PMID:25741868 PMID:26080100 PMID:26467025 PMID:28492532 NCBI chr 6:8,886,730...8,891,094
Ensembl chr 6:8,886,591...8,889,925
JBrowse link
holoprosencephaly 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lmbr1 limb development membrane protein 1 ISO ClinVar Annotator: match by term: Holoprosencephaly 3 ClinVar PMID:28492532 NCBI chr 4:2,116,094...2,274,111
Ensembl chr 4:2,116,094...2,201,749
JBrowse link
G Shh sonic hedgehog signaling molecule ISO ClinVar Annotator: match by term: Holoprosencephaly 3
ClinVar Annotator: match by OMIM:142945
OMIM
ClinVar
PMID:8896572 PMID:9302262 PMID:9600232 PMID:10479723 PMID:10556296 PMID:11471164 PMID:11857543 PMID:11919111 PMID:12567406 PMID:12709790 PMID:15292211 PMID:16282375 PMID:18655123 PMID:19478089 PMID:19533790 PMID:19561609 PMID:19603532 PMID:19920144 PMID:20157829 PMID:20425842 PMID:21416594 PMID:22897141 PMID:25741868 PMID:26467025 PMID:28127823 PMID:28492532 PMID:29205322 NCBI chr 4:718,538...727,691
Ensembl chr 4:718,538...727,691
JBrowse link
holoprosencephaly 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tgif1 TGFB-induced factor homeobox 1 ISO ClinVar Annotator: match by OMIM:142946
ClinVar Annotator: match by term: Holoprosencephaly 4
ClinVar
OMIM
PMID:10835638 PMID:11810641 PMID:12522553 PMID:16199538 PMID:16962354 PMID:17001671 PMID:19431187 PMID:21940735 PMID:22125506 PMID:24123366 PMID:25741868 PMID:28492532 NCBI chr 9:119,181,079...119,190,698
Ensembl chr 9:119,181,083...119,190,698
JBrowse link
holoprosencephaly 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Clybl citramalyl-CoA lyase ISO ClinVar Annotator: match by term: Holoprosencephaly 5 ClinVar PMID:19955556 PMID:28492532 NCBI chr15:108,608,203...108,838,222
Ensembl chr15:108,608,204...108,838,235
JBrowse link
G Tm9sf2 transmembrane 9 superfamily member 2 ISO ClinVar Annotator: match by term: Holoprosencephaly 5 ClinVar PMID:19955556 PMID:28492532 NCBI chr15:108,526,341...108,579,268
Ensembl chr15:108,526,014...108,579,256
JBrowse link
G Ubac2 UBA domain containing 2 ISO ClinVar Annotator: match by term: Holoprosencephaly 5 ClinVar PMID:19955556 PMID:28492532 NCBI chr15:108,286,407...108,433,531
Ensembl chr15:108,286,453...108,433,529
JBrowse link
G Zic2 Zic family member 2 ISO ClinVar Annotator: match by term: Holoprosencephaly 5
ClinVar Annotator: match by OMIM:609637
ClinVar Annotator: match by null
OMIM
ClinVar
PMID:9771712 PMID:11285244 PMID:11479728 PMID:15590697 PMID:19177455 PMID:19955556 PMID:21638761 PMID:21990207 PMID:22847929 PMID:25741868 PMID:28492532 NCBI chr15:108,908,366...108,913,812
Ensembl chr15:108,908,607...108,912,737
JBrowse link
G Zic5 Zic family member 5 ISO ClinVar Annotator: match by term: Holoprosencephaly 5 ClinVar PMID:19955556 PMID:28492532 NCBI chr15:108,891,992...108,907,601
Ensembl chr15:108,891,992...108,898,703
JBrowse link
holoprosencephaly 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ptch1 patched 1 ISO ClinVar Annotator: match by term: Holoprosencephaly 7
ClinVar Annotator: match by OMIM:610828
OMIM
ClinVar
PMID:1347096 PMID:8302318 PMID:9463336 PMID:11941477 PMID:12204003 PMID:12925203 PMID:15712338 PMID:16231297 PMID:16301862 PMID:17001668 PMID:17096318 PMID:17985375 PMID:18502968 PMID:19346217 PMID:20485063 PMID:21188540 PMID:21520333 PMID:22313357 PMID:22675565 PMID:22703879 PMID:22820256 PMID:22995991 PMID:23313819 PMID:23334667 PMID:23761049 PMID:23951062 PMID:24033266 PMID:24055113 PMID:24204797 PMID:24368541 PMID:24728327 PMID:24942795 PMID:25260786 PMID:25637381 PMID:25741868 PMID:26489027 PMID:26544948 PMID:26893459 PMID:27153395 PMID:27535533 PMID:27561271 PMID:27930734 PMID:28492532 PMID:28873162 PMID:29575684 NCBI chr17:1,032,242...1,085,885
Ensembl chr17:1,029,048...1,093,873
JBrowse link
holoprosencephaly 9 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gli2 GLI family zinc finger 2 ISO ClinVar Annotator: match by term: Holoprosencephaly 9
ClinVar Annotator: match by OMIM:610829
OMIM
ClinVar
PMID:1756909 PMID:14581620 PMID:15994174 PMID:16327884 PMID:17096318 PMID:17569090 PMID:19223936 PMID:20685056 PMID:20685856 PMID:21204792 PMID:21416594 PMID:22967285 PMID:22978696 PMID:23408573 PMID:24744436 PMID:25741868 PMID:26893459 PMID:28492532 PMID:29876959 PMID:30548673 NCBI chr13:34,829,021...35,049,172
Ensembl chr13:34,829,139...35,048,444
JBrowse link
Holoprosencephaly, Ectrodactyly, and Bilateral Cleft Lip/Palate term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fgfr1 Fibroblast growth factor receptor 1 ISO ClinVar Annotator: match by null
ClinVar Annotator: match by term: Hartsfield syndrome
ClinVar
OMIM
PMID:15605412 PMID:16764984 PMID:19504604 PMID:23657145 PMID:23812909 PMID:24204987 PMID:24888332 PMID:25064402 PMID:25326635 PMID:25741868 PMID:26931467 PMID:28492532 PMID:31474318 NCBI chr16:71,265,390...71,319,046
Ensembl chr16:71,266,248...71,319,449
JBrowse link
Hoyeraal Hreidarsson Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dclre1b DNA cross-link repair 1B ISO ClinVar Annotator: match by term: Hoyeraal Hreidarsson syndrome ClinVar PMID:28492532 NCBI chr 2:206,285,085...206,293,599
Ensembl chr 2:206,285,089...206,293,599
JBrowse link
G Dkc1 dyskerin pseudouridine synthase 1 ISO ClinVar Annotator: match by term: Hoyeraal Hreidarsson syndrome ClinVar PMID:7607282 PMID:10583221 PMID:12437656 PMID:19734544 NCBI chr  X:155,844,914...155,862,363
Ensembl chr  X:155,844,857...155,862,475
JBrowse link
G Tert telomerase reverse transcriptase ISO CTD Direct Evidence: marker/mechanism CTD PMID:17785587 NCBI chr 1:32,250,876...32,275,330
Ensembl chr 1:32,251,714...32,272,476
JBrowse link
Hydranencephaly with Renal Aplasia-Dysplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cep55 centrosomal protein 55 ISO ClinVar Annotator: match by term: Hydranencephaly with renal aplasia-dysplasia ClinVar PMID:25741868 PMID:28264986 PMID:28295209 NCBI chr 1:256,745,251...256,760,794
Ensembl chr 1:256,745,288...256,760,796
JBrowse link
infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Med17 mediator complex subunit 17 ISO ClinVar Annotator: match by term: Microcephaly, postnatal progressive, with seizures and brain atrophy
ClinVar Annotator: match by OMIM:613668
OMIM
ClinVar
PMID:18414213 PMID:20950787 PMID:25741868 PMID:28492532 NCBI chr 8:13,522,257...13,835,302
Ensembl chr 8:13,819,563...13,835,168
JBrowse link
Intellectual Developmental Disorder with Abnormal Behavior, Microcephaly, and Short Stature term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pus7 pseudouridine synthase 7 ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER WITH ABNORMAL BEHAVIOR, MICROCEPHALY, AND SHORT STATURE OMIM
ClinVar
PMID:25741868 PMID:30526862 PMID:30778726 NCBI chr 4:7,889,727...7,931,357
Ensembl chr 4:7,889,869...7,930,706
JBrowse link
Juberg Hayward Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Flna filamin A ISO ClinVar Annotator: match by term: Cranio-oro-digital syndrome ClinVar PMID:10982489 PMID:12410386 PMID:12612583 PMID:15194946 PMID:15917206 PMID:16299064 PMID:16417552 PMID:16822260 PMID:17264970 PMID:17431908 PMID:17632775 PMID:18414213 PMID:18805826 PMID:19773341 PMID:20598277 PMID:20844545 PMID:21520333 PMID:21836662 PMID:22522697 PMID:25167861 PMID:25649377 PMID:25741868 PMID:26404489 PMID:26467025 PMID:27193221 PMID:28133863 PMID:28454995 PMID:28492532 PMID:31064749 NCBI chr  X:156,460,785...156,487,245
Ensembl chr  X:156,463,953...156,487,245
JBrowse link
Kat6a Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kat6a lysine acetyltransferase 6A ISO ClinVar Annotator: match by term: KAT6A syndrome ClinVar PMID:17374998 PMID:25728775 PMID:25741868 PMID:27133397 NCBI chr16:73,942,669...74,020,750
Ensembl chr16:73,943,455...74,023,005
JBrowse link
Kaufman oculocerebrofacial syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ror2 receptor tyrosine kinase-like orphan receptor 2 ISO ClinVar Annotator: match by term: Blepharophimosis-ptosis-intellectual disability syndrome ClinVar PMID:18414213 PMID:25741868 NCBI chr17:11,953,552...12,134,386
Ensembl chr17:11,953,552...12,134,386
JBrowse link
G Ube3b ubiquitin protein ligase E3B ISO ClinVar Annotator: match by term: Kaufman oculocerebrofacial syndrome
CTD Direct Evidence: marker/mechanism
ClinVar
OMIM
CTD
PMID:23200864 PMID:24615390 PMID:25356970 PMID:25741868 PMID:28003368 NCBI chr12:47,946,691...47,991,973
Ensembl chr12:47,948,247...47,990,105
JBrowse link
LEUKODYSTROPHY AND ACQUIRED MICROCEPHALY WITH OR WITHOUT DYSTONIA term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dll3 delta like canonical Notch ligand 3 ISO ClinVar Annotator: match by term: Leukodystrophy and acquired microcephaly with or without dystonia ClinVar PMID:25741868 NCBI chr 1:85,485,875...85,493,683
Ensembl chr 1:85,485,289...85,493,685
JBrowse link
G Plekhg2 pleckstrin homology and RhoGEF domain containing G2 ISO ClinVar Annotator: match by term: Leukodystrophy and acquired microcephaly with or without dystonia ClinVar
OMIM
PMID:25741868 PMID:26573021 NCBI chr 1:85,386,492...85,399,699
Ensembl chr 1:85,386,470...85,399,699
JBrowse link
linear skin defects with multiple congenital anomalies 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cox7b cytochrome c oxidase subunit 7B ISO ClinVar Annotator: match by term: Linear skin defects with multiple congenital anomalies 2 OMIM
ClinVar
PMID:9747372 PMID:23122588 PMID:25741868 NCBI chr  X:77,065,427...77,071,676
Ensembl chr  X:77,065,397...77,071,676
JBrowse link
lissencephaly term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Arx aristaless related homeobox ISS OMIM:300067 | OMIM:300215 | OMIM:607432 | OMIM:611603 | OMIM:614019 | OMIM:615191 MouseDO NCBI chr  X:62,363,757...62,376,139
Ensembl chr  X:62,363,757...62,376,143
JBrowse link
G Cep85l centrosomal protein 85-like ISO ClinVar Annotator: match by term: Lissencephaly
ClinVar Annotator: match by term: Posterior Predominant Lissencephaly
ClinVar PMID:12910438 PMID:29706646 PMID:32097630 NCBI chr20:34,574,043...34,743,142
Ensembl chr20:34,575,950...34,684,418
JBrowse link
G Ctnna2 catenin alpha 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30013181 NCBI chr 4:107,880,611...109,042,724
Ensembl chr 4:107,881,826...108,008,484
JBrowse link
G Dag1 dystroglycan 1 ISS OMIM:300067 | OMIM:300215 | OMIM:607432 | OMIM:611603 | OMIM:614019 | OMIM:615191 MouseDO NCBI chr 8:116,980,501...116,993,182
Ensembl chr 8:116,980,497...116,993,193
JBrowse link
G Dcx doublecortin ISS OMIM:300067 | OMIM:300215 | OMIM:607432 | OMIM:611603 | OMIM:614019 | OMIM:615191 MouseDO NCBI chr  X:115,098,675...115,175,515
Ensembl chr  X:115,098,675...115,175,299
JBrowse link
G Exosc3 exosome component 3 ISO ClinVar Annotator: match by term: Lissencephaly ClinVar PMID:22544365 PMID:23883322 PMID:25741868 NCBI chr 5:60,866,498...60,871,734
Ensembl chr 5:60,868,502...60,871,705
JBrowse link
G Lamb1 laminin subunit beta 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 6:50,528,796...50,596,593
Ensembl chr 6:50,528,823...50,596,079
JBrowse link
G Macf1 microtubule-actin crosslinking factor 1 ISO ClinVar Annotator: match by term: Lissencephaly ClinVar PMID:30471716 NCBI chr 5:141,039,455...141,363,524
Ensembl chr 5:141,039,468...141,363,524
JBrowse link
G Mir484 microRNA 484 ISO ClinVar Annotator: match by term: Lissencephaly, Recessive ClinVar NCBI chr10:27,845...27,921
Ensembl chr10:27,845...27,921
JBrowse link
G Myh11 myosin heavy chain 11 ISO ClinVar Annotator: match by term: Lissencephaly, Recessive ClinVar PMID:18391202 PMID:24033266 PMID:25741868 PMID:26017485 PMID:26436109 PMID:28492532 NCBI chr10:764,421...859,184
Ensembl chr10:764,421...859,184
JBrowse link
G Nbn nibrin ISO ClinVar Annotator: match by term: Agyria ClinVar PMID:9590180 PMID:9620777 PMID:10398434 PMID:10852373 PMID:11093281 PMID:11279524 PMID:11953735 PMID:12123493 PMID:12505263 PMID:12833396 PMID:14973119 PMID:15185344 PMID:16033915 PMID:16544999 PMID:17103455 PMID:18606567 PMID:18940477 PMID:19635536 PMID:19908051 PMID:20444919 PMID:22131123 PMID:22293976 PMID:22941933 PMID:23317186 PMID:23765759 PMID:24033266 PMID:24113799 PMID:25186627 PMID:25485873 PMID:25741868 PMID:25980754 PMID:26083025 PMID:26467025 PMID:26681312 PMID:26822949 PMID:26845104 PMID:27150568 PMID:27616075 PMID:28492532 PMID:31173646 PMID:32295079 NCBI chr 5:29,622,347...29,656,877
Ensembl chr 5:29,622,281...29,656,864
JBrowse link
G Nde1 nudE neurodevelopment protein 1 ISO ClinVar Annotator: match by term: Lissencephaly, Recessive
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:18391202 PMID:24033266 PMID:25741868 PMID:26017485 PMID:26436109 PMID:28492532 NCBI chr10:860,513...904,624
Ensembl chr10:860,521...896,938
JBrowse link
G Pafah1b1 platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 severity ISO ClinVar Annotator: match by term: Isolated Lissencephaly Sequence
ClinVar Annotator: match by term: Lissencephaly 1
ClinVar Annotator: match by term: Lissencephaly/Subcortical Band Heterotopia
DNA:mutations::
ClinVar Annotator: match by OMIM:607432
OMIM
ClinVar
PMID:9063735 PMID:9147889 PMID:10441340 PMID:10583396 PMID:11115846 PMID:11502906 PMID:12885786 PMID:14581661 PMID:15007136 PMID:17664403 PMID:18414213 PMID:19667223 PMID:24088041 PMID:25326635 PMID:25741868 PMID:26633545 PMID:27891766 PMID:32238909, PMID:11115846 RGD:11073221 NCBI chr10:61,456,144...61,577,412
Ensembl chr10:61,456,145...61,577,412
JBrowse link
G Pomgnt1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) ISO DNA:frameshift mutations, missense mutations, deletion:exon, intron:multiple RGD PMID:17559086 RGD:11065022 NCBI chr 5:135,007,343...135,017,220
Ensembl chr 5:135,007,343...135,017,218
JBrowse link
G Pomt1 protein-O-mannosyltransferase 1 ISO DNA:insertions, deletions, missense mutations: :multiple RGD PMID:17559086 RGD:11065022 NCBI chr 3:11,253,424...11,271,873
Ensembl chr 3:11,254,026...11,271,872
JBrowse link
G Pomt2 protein-O-mannosyltransferase 2 ISO DNA:missense mutation:exonp.G726R (c.2176G>A) (human) RGD PMID:17559086 RGD:11065022 NCBI chr 6:111,137,329...111,176,991
Ensembl chr 6:111,135,349...111,176,918
JBrowse link
G Reln reelin ISO ClinVar Annotator: match by term: Lissencephaly, Recessive ClinVar PMID:23757202 PMID:25741868 PMID:28492532 NCBI chr 4:9,347,533...9,774,257
Ensembl chr 4:9,347,528...9,773,670
JBrowse link
G Tmtc3 transmembrane O-mannosyltransferase targeting cadherins 3 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 7:40,171,957...40,217,056
Ensembl chr 7:40,171,963...40,217,056
JBrowse link
G Tuba1a tubulin, alpha 1A ISO
ISS
DNA:missense mutations:cds:c.790C>T(p.R264C), c.1205G>A(p.R402H),c.1204C>T(p.R402C)(human)
OMIM:300067 | OMIM:300215 | OMIM:607432 | OMIM:611603 | OMIM:614019 | OMIM:615191
MouseDO PMID:17584854 RGD:12859083 NCBI chr 7:140,637,287...140,640,953
Ensembl chr 7:140,637,287...140,640,953
JBrowse link
G Tuba3a tubulin, alpha 3A ISO ClinVar Annotator: match by term: Lissencephaly ClinVar PMID:25558065 NCBI chr 4:157,789,874...157,798,763
Ensembl chr 4:157,789,874...157,798,868
JBrowse link
Lissencephaly 10 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cep85l centrosomal protein 85-like ISO ClinVar Annotator: match by term: LISSENCEPHALY 10 OMIM
ClinVar
PMID:12910438 PMID:32097630 NCBI chr20:34,574,043...34,743,142
Ensembl chr20:34,575,950...34,684,418
JBrowse link
Lissencephaly 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aipl1 aryl hydrocarbon receptor-interacting protein-like 1 ISO ClinVar Annotator: match by term: Lissencephaly 3 ClinVar PMID:10873396 PMID:22412862 PMID:25741868 NCBI chr10:58,599,690...58,631,194
Ensembl chr10:58,599,856...58,608,907
JBrowse link
G Nkx2-5 NK2 homeobox 5 ISO ClinVar Annotator: match by term: Lissencephaly 3 ClinVar PMID:18414213 PMID:18976153 PMID:19181906 PMID:19464101 PMID:20981092 PMID:22995991 PMID:24033266 PMID:24376681 PMID:25741868 PMID:28492532 NCBI chr10:16,635,989...16,638,758
Ensembl chr10:16,635,989...16,638,764
JBrowse link
G Strc stereocilin ISO ClinVar Annotator: match by term: Tubulinopathies ClinVar PMID:18381613 PMID:22147502 PMID:24033266 PMID:25741868 PMID:25787132 PMID:27352967 PMID:27854218 NCBI chr 3:113,324,403...113,343,513
Ensembl chr 3:113,324,698...113,342,675
JBrowse link
G Tuba1a tubulin, alpha 1A ISO ClinVar Annotator: match by term: Tubulinopathies
ClinVar Annotator: match by term: Lissencephaly 3
ClinVar Annotator: match by OMIM:611603
OMIM
ClinVar
PMID:3680207 PMID:6945576 PMID:17218254 PMID:17584854 PMID:18199681 PMID:18414213 PMID:18728072 PMID:18954413 PMID:20466733 PMID:20603323 PMID:21403111 PMID:24088041 PMID:24860126 PMID:25059107 PMID:25326635 PMID:25326637 PMID:25741868 PMID:26633545 PMID:26663670 PMID:28492532 PMID:29706646 PMID:29907476 PMID:30087272 PMID:30744660 PMID:31474318 PMID:32581362 NCBI chr 7:140,637,287...140,640,953
Ensembl chr 7:140,637,287...140,640,953
JBrowse link
Lissencephaly 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mir484 microRNA 484 ISO ClinVar Annotator: match by term: Lissencephaly 4 ClinVar NCBI chr10:27,845...27,921
Ensembl chr10:27,845...27,921
JBrowse link
G Myh11 myosin heavy chain 11 ISO ClinVar Annotator: match by term: Lissencephaly 4 ClinVar PMID:24033266 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr10:764,421...859,184
Ensembl chr10:764,421...859,184
JBrowse link
G Nde1 nudE neurodevelopment protein 1 ISO ClinVar Annotator: match by term: Lissencephaly 4
ClinVar Annotator: match by OMIM:614019
OMIM
ClinVar
PMID:18414213 PMID:21529751 PMID:21529752 PMID:24033266 PMID:25326635 PMID:25741868 PMID:26206584 PMID:26467025 PMID:28492532 NCBI chr10:860,513...904,624
Ensembl chr10:860,521...896,938
JBrowse link
Lissencephaly 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lamb1 laminin subunit beta 1 ISO ClinVar Annotator: match by term: Lissencephaly 5
ClinVar Annotator: match by OMIM:615191
OMIM
ClinVar
PMID:23472759 PMID:25326635 PMID:25741868 PMID:25925986 NCBI chr 6:50,528,796...50,596,593
Ensembl chr 6:50,528,823...50,596,079
JBrowse link
Lissencephaly 6, with Microcephaly term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Katnb1 katanin regulatory subunit B1 ISO ClinVar Annotator: match by term: Lissencephaly 6, with microcephaly OMIM
ClinVar
PMID:25521378 PMID:25521379 NCBI chr19:10,340,027...10,360,319
Ensembl chr19:10,340,307...10,360,310
JBrowse link
Lissencephaly 7 with Cerebellar Hypoplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cdk5 cyclin-dependent kinase 5 ISO ClinVar Annotator: match by term: Lissencephaly 7 with cerebellar hypoplasia OMIM
ClinVar
PMID:25560765 NCBI chr 4:7,282,945...7,287,427
Ensembl chr 4:7,282,948...7,288,383
JBrowse link
Lissencephaly 8 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tmtc3 transmembrane O-mannosyltransferase targeting cadherins 3 ISO ClinVar Annotator: match by term: LISSENCEPHALY 8
ClinVar Annotator: match by term: Lissencephaly 8
ClinVar
OMIM
PMID:25741868 PMID:27773428 NCBI chr 7:40,171,957...40,217,056
Ensembl chr 7:40,171,963...40,217,056
JBrowse link
Lissencephaly 9 with Complex Brainstem Malformation term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Macf1 microtubule-actin crosslinking factor 1 ISO ClinVar Annotator: match by term: LISSENCEPHALY 9 WITH COMPLEX BRAINSTEM MALFORMATION OMIM
ClinVar
PMID:24507697 PMID:25741868 PMID:30471716 NCBI chr 5:141,039,455...141,363,524
Ensembl chr 5:141,039,468...141,363,524
JBrowse link
Lissencephaly and Agenesis of Corpus Callosum term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dcx doublecortin ISO ClinVar Annotator: match by term: Lissencephaly and agenesis of corpus callosum
ClinVar Annotator: match by term: Subcortical laminar heterotopia, X-linked
ClinVar Annotator: match by synonym: Subcortical laminar heterotopia, X-linked
ClinVar PMID:9489699 PMID:9489700 PMID:10441340 PMID:11468322 PMID:12552055 PMID:17111359 PMID:18414213 PMID:25326635 PMID:25741868 NCBI chr  X:115,098,675...115,175,515
Ensembl chr  X:115,098,675...115,175,299
JBrowse link
Lissencephaly, X-Linked, 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Arx aristaless related homeobox ISO ClinVar Annotator: match by term: Lissencephaly 2, X-linked
ClinVar Annotator: match by term: X-linked lissencephaly 2
DNA:mutations:multiple (human)
ClinVar Annotator: match by OMIM:300215
OMIM
ClinVar
PMID:11891829 PMID:11971879 PMID:12379852 PMID:12874405 PMID:12874418 PMID:14722918 PMID:18414213 PMID:18462864 PMID:19439424 PMID:19507262 PMID:19606478 PMID:20300201 PMID:22252899 PMID:22922607 PMID:23246292 PMID:23757202 PMID:24781210 PMID:25741868 PMID:26029707 PMID:28492532, PMID:12379852 RGD:11565832 NCBI chr  X:62,363,757...62,376,139
Ensembl chr  X:62,363,757...62,376,143
JBrowse link
Lowry Wood Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Clasp1 cytoplasmic linker associated protein 1 ISO ClinVar Annotator: match by term: Lowry-wood syndrome
ClinVar Annotator: match by term: Lowry-Wood syndrome
ClinVar PMID:12605445 PMID:19288552 PMID:21474760 PMID:21474761 PMID:21977988 PMID:25735804 PMID:25741868 PMID:26522830 PMID:29265708 PMID:30368667 PMID:32581362 NCBI chr13:34,365,038...34,584,651
Ensembl chr13:34,365,147...34,584,651
JBrowse link
mandibulofacial dysostosis, Guion-Almeida type term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Eftud2 elongation factor Tu GTP binding domain containing 2 ISO ClinVar Annotator: match by term: Growth and mental retardation, mandibulofacial dysostosis, microcephaly, and cleft palate
ClinVar Annotator: match by OMIM:610536
DNA:mutations:multiple (human)
OMIM
ClinVar
PMID:16760738 PMID:19334086 PMID:22305528 PMID:22541558 PMID:23188108 PMID:25326635 PMID:25326637 PMID:25741868 PMID:28708303, PMID:22305528 RGD:10045557 NCBI chr10:90,932,071...90,983,971
Ensembl chr10:90,932,075...90,983,928
JBrowse link
MEHMO syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Eif2s3 eukaryotic translation initiation factor 2 subunit gamma ISO ClinVar Annotator: match by term: Mental retardation, epileptic seizures, hypogonadism and hypogenitalism, microcephaly, and obesity
ClinVar Annotator: match by term: MEHMO syndrome
ClinVar
OMIM
PMID:23063529 PMID:25741868 PMID:25741869 PMID:27333055 PMID:28055140 NCBI chr  X:63,268,106...63,291,125
Ensembl chr  X:63,268,037...63,292,092
JBrowse link
Mental Retardation, Autosomal Recessive 34, with variant lissencephaly term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cradd CASP2 and RIPK1 domain containing adaptor with death domain ISO ClinVar Annotator: match by term: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 34, WITH VARIANT LISSENCEPHALY
ClinVar Annotator: match by OMIM:614499
OMIM
ClinVar
PMID:22279524 PMID:25741868 PMID:27773430 NCBI chr 7:36,395,665...36,408,588
Ensembl chr 7:36,395,665...36,408,588
JBrowse link
Microcephalic Osteodysplastic Primordial Dwarfism term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pcnt pericentrin ISO ClinVar Annotator: match by term: Microcephalic Osteodysplastic Primordial Dwarfism ClinVar PMID:18414213 PMID:28492532 NCBI chr20:12,943,523...13,038,615
Ensembl chr20:12,944,786...13,038,431
JBrowse link
microcephalic osteodysplastic primordial dwarfism type I term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Clasp1 cytoplasmic linker associated protein 1 ISO ClinVar Annotator: match by term: Osteodysplastic primordial dwarfism, type 1
ClinVar Annotator: match by term: Low-birth-weight dwarfism with skeletal dysplasia
ClinVar PMID:12605445 PMID:21474760 PMID:21474761 PMID:21977988 PMID:22581640 PMID:23794361 PMID:24865609 PMID:25741868 PMID:25741869 PMID:26522830 PMID:27040866 PMID:29165669 PMID:29265708 PMID:30368667 NCBI chr13:34,365,038...34,584,651
Ensembl chr13:34,365,147...34,584,651
JBrowse link
microcephalic osteodysplastic primordial dwarfism type II term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pcnt pericentrin ISO ClinVar Annotator: match by term: Microcephalic osteodysplastic primordial dwarfism type II
ClinVar Annotator: match by term: Microcephalic osteodysplastic primordial dwarfism type 2
ClinVar Annotator: match by OMIM:210720
DNA:frameshift mutations, nonsense mutation:exon:p.E220X (658G>T), 1887del, 3568_3569insT (human)
DNA:frameshift mutations, nonsense mutations, splice-site mutations:exon, intron:multiple
DNA:mutations: :multiple
DNA:deletion, nonsense mutations:exon:p.K3154del (c.9460_9462del), p.E1154X (c.3460G>T), p.P1923X (c.5765C>T) (human)
OMIM
ClinVar
PMID:12210304 PMID:15372530 PMID:18157127 PMID:18174396 PMID:18414213 PMID:19448849 PMID:19643772 PMID:19839044 PMID:19937158 PMID:21195721 PMID:21567919 PMID:23033978 PMID:24033266 PMID:25326635 PMID:25741868 PMID:27323140 PMID:27900370 PMID:28492532 PMID:32818659, PMID:18157127, PMID:19643772, PMID:18174396, PMID:21567919 RGD:11537403, RGD:11537402, RGD:11537401, RGD:11537400 NCBI chr20:12,943,523...13,038,615
Ensembl chr20:12,944,786...13,038,431
JBrowse link
microcephaly term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aaas aladin WD repeat nucleoporin ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr 7:143,937,198...143,956,668
Ensembl chr 7:143,937,199...143,956,668
JBrowse link
G Acadsb acyl-CoA dehydrogenase, short/branched chain ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr 1:201,981,362...202,022,771
Ensembl chr 1:201,981,357...202,021,008
JBrowse link
G Ace angiotensin I converting enzyme ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr10:94,170,766...94,213,831
Ensembl chr10:94,170,766...94,187,822
JBrowse link
G Actg1 actin, gamma 1 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr10:109,518,429...109,521,288
Ensembl chr 3:75,643,054...75,644,954
Ensembl chr10:75,643,054...75,644,954
JBrowse link
G Adar adenosine deaminase, RNA-specific ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr 2:189,045,551...189,085,448
Ensembl chr 2:189,062,443...189,083,236
JBrowse link
G Adarb1 adenosine deaminase, RNA-specific, B1 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr20:11,972,352...12,101,022
Ensembl chr20:11,972,381...12,101,047
JBrowse link
G Adat3 adenosine deaminase, tRNA-specific 3 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr 7:11,977,285...11,981,814 JBrowse link
G Add3 adducin 3 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr 1:273,854,195...273,961,982
Ensembl chr 1:273,854,248...273,961,982
JBrowse link
G Adgrl2 adhesion G protein-coupled receptor L2 ISO RGD PMID:30340542 RGD:13838661 NCBI chr 2:258,792,838...258,997,145
Ensembl chr 2:258,792,839...258,997,145
JBrowse link
G Adnp activity-dependent neuroprotector homeobox ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr 3:164,937,188...164,964,819
Ensembl chr 3:164,937,198...164,964,702
JBrowse link
G Agt angiotensinogen ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr19:57,321,594...57,333,460
Ensembl chr19:57,321,640...57,333,433
JBrowse link
G Alpl alkaline phosphatase, biomineralization associated ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:9452105 PMID:11760847 PMID:12162492 PMID:18455459 PMID:18769927 PMID:18821074 PMID:25023282 PMID:25741868 PMID:28492532 PMID:30293248 NCBI chr 5:156,086,496...156,141,513
Ensembl chr 5:156,086,497...156,141,537
JBrowse link
G Als2 alsin Rho guanine nucleotide exchange factor ALS2 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr 9:65,961,361...66,034,396
Ensembl chr 9:65,961,346...66,033,871
JBrowse link
G Ampd2 adenosine monophosphate deaminase 2 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr 2:210,861,624...210,874,348
Ensembl chr 2:210,861,625...210,874,304
JBrowse link
G Ank1 ankyrin 1 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr16:73,681,422...73,912,605
Ensembl chr16:73,681,422...73,827,488
JBrowse link
G Ankle2 ankyrin repeat and LEM domain containing 2 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:23806086 PMID:24088041 PMID:25259927 NCBI chr12:52,475,862...52,507,126
Ensembl chr12:52,475,863...52,507,126
JBrowse link
G Ap3b2 adaptor related protein complex 3 subunit beta 2 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr 1:143,284,041...143,315,846
Ensembl chr 1:143,283,996...143,315,633
JBrowse link
G Arcn1 archain 1 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr 8:49,051,257...49,075,861
Ensembl chr 8:49,051,246...49,075,892
JBrowse link
G Arfgef2 ADP ribosylation factor guanine nucleotide exchange factor 2 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr 3:163,570,435...163,656,612
Ensembl chr 3:163,570,532...163,656,626
JBrowse link
G Arhgef2 Rho/Rac guanine nucleotide exchange factor 2 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr 2:187,964,100...188,022,847
Ensembl chr 2:187,977,008...188,021,377
JBrowse link
G Arid1b AT-rich interaction domain 1B ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr 1:45,923,119...46,232,301
Ensembl chr 1:45,923,222...46,234,874
JBrowse link
G Arid2 AT-rich interaction domain 2 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:24728327 PMID:25741868 PMID:28492532 NCBI chr 7:137,680,564...137,798,329
Ensembl chr 7:137,680,530...137,795,655
JBrowse link
G Arvcf ARVCF, delta catenin family member ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr11:86,736,125...86,793,795
Ensembl chr11:86,736,142...86,793,791
JBrowse link
G Asf1a anti-silencing function 1A histone chaperone ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:24824130 NCBI chr20:34,894,419...34,909,265
Ensembl chr20:34,894,419...34,909,265
JBrowse link
G Aspm assembly factor for spindle microtubules susceptibility
treatment
ISO
ISS
ClinVar Annotator: match by term: Primary Microcephaly, Recessive
OMIM:251200 | OMIM:604321 | OMIM:604804 | OMIM:608393 | OMIM:608716 | OMIM:612703
DNA:mutations:multiple:
ClinVar Annotator: match by term: Microcephaly
ClinVar
MouseDO
PMID:25741868 PMID:26539891 PMID:28492532, PMID:16141009, PMID:20823249, PMID:20823249, PMID:19808985 RGD:1599300, RGD:13439744, RGD:13439744, RGD:13439741 NCBI chr13:56,546,021...56,591,793
Ensembl chr13:56,546,021...56,591,793
JBrowse link
G Asxl1 ASXL transcriptional regulator 1 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr 3:148,832,231...148,902,356
Ensembl chr 3:148,837,814...148,900,452
JBrowse link
G Atm ATM serine/threonine kinase ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:19781682 PMID:25741868 PMID:28492532 PMID:30287823 PMID:31871109 PMID:32068069 PMID:32566746 NCBI chr 8:58,015,938...58,119,973
Ensembl chr 8:58,015,940...58,120,045
JBrowse link
G Atpaf2 ATP synthase mitochondrial F1 complex assembly factor 2 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr10:46,768,539...46,783,889
Ensembl chr10:46,768,539...46,783,889
JBrowse link
G Atr ATR serine/threonine kinase ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr 8:103,673,578...103,770,886
Ensembl chr 8:103,673,411...103,770,947
JBrowse link
G Atrx ATRX, chromatin remodeler ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr  X:76,820,110...76,979,155
Ensembl chr  X:76,692,970...76,708,878
Ensembl chr  X:76,692,970...76,708,878
JBrowse link
G B3galnt2 beta-1,3-N-acetylgalactosaminyltransferase 2 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr17:54,027,859...54,070,399
Ensembl chr17:54,027,859...54,070,399
JBrowse link
G Bcap31 B-cell receptor-associated protein 31 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr  X:157,094,365...157,126,397
Ensembl chr  X:157,095,937...157,126,393
JBrowse link
G Bcs1l BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:22277967 PMID:25741868 PMID:32581362 NCBI chr 9:81,868,158...81,872,201
Ensembl chr 9:81,868,265...81,872,197
JBrowse link
G Blm BLM RecQ like helicase ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:24728327 PMID:25741868 PMID:28492532 PMID:32566746 NCBI chr 1:142,246,773...142,332,616
Ensembl chr 1:142,246,790...142,332,588
JBrowse link
G Bptf bromodomain PHD finger transcription factor ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr10:95,248,573...95,350,162
Ensembl chr10:95,250,294...95,349,789
JBrowse link
G Brd4 bromodomain containing 4 ISO ClinVar Annotator: match by term: Microcephaly ClinVar NCBI chr 7:14,222,101...14,303,055
Ensembl chr 7:14,222,101...14,303,055
JBrowse link
G Bub1b BUB1 mitotic checkpoint serine/threonine kinase B ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Microcephaly
CTD
ClinVar
PMID:15475955 PMID:25741868 PMID:28492532 NCBI chr 3:110,367,949...110,420,471
Ensembl chr 3:110,367,939...110,420,458
JBrowse link
G Calhm4 calcium homeostasis modulator family member 4 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:24824130 NCBI chr20:27,573,809...27,578,269
Ensembl chr20:27,575,533...27,578,244
JBrowse link
G Calhm5 calcium homeostasis modulator family member 5 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:24824130 NCBI chr20:27,651,817...27,673,817
Ensembl chr20:27,651,312...27,657,983
JBrowse link
G Calhm6 calcium homeostasis modulator family member 6 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:24824130 NCBI chr20:27,681,138...27,683,580
Ensembl chr20:27,681,036...27,682,861
JBrowse link
G Camk2b calcium/calmodulin-dependent protein kinase II beta ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:29100089 PMID:32581362 NCBI chr14:86,208,876...86,297,727
Ensembl chr14:86,208,901...86,297,652
JBrowse link
G Cars2 cysteinyl-tRNA synthetase 2, mitochondrial ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr16:83,288,613...83,325,706
Ensembl chr16:83,288,664...83,325,699
JBrowse link
G Cask calcium/calmodulin dependent serine protein kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:19165920 NCBI chr  X:9,815,652...10,156,155
Ensembl chr  X:9,815,652...10,156,155
JBrowse link
G Cbl Cbl proto-oncogene ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr 8:48,481,256...48,564,775
Ensembl chr 8:48,489,036...48,564,722
JBrowse link
G Cc2d2a coiled-coil and C2 domain containing 2A ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:28492532 NCBI chr14:71,895,128...71,979,452
Ensembl chr14:71,895,246...71,973,419
JBrowse link
G Ccdc88a coiled coil domain containing 88A ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr14:113,771,093...113,936,376
Ensembl chr14:113,867,209...113,932,263
JBrowse link
G Cdc45 cell division cycle 45 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr11:86,328,785...86,354,099
Ensembl chr11:86,329,012...86,358,453
JBrowse link
G Cdc6 cell division cycle 6 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr10:86,819,477...86,833,301
Ensembl chr10:86,819,472...86,833,402
JBrowse link
G Cdk19 cyclin-dependent kinase 19 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr20:45,458,499...45,598,799
Ensembl chr20:45,458,558...45,598,798
JBrowse link
G Cdk5rap2 CDK5 regulatory subunit associated protein 2 ISO
ISS
ClinVar Annotator: match by term: Primary Microcephaly, Recessive
ClinVar Annotator: match by term: Microcephaly
OMIM:251200 | OMIM:604321 | OMIM:604804 | OMIM:608393 | OMIM:608716 | OMIM:612703
DNA:mutations:splice junction:c.383+1G>C,c.4005-9A>G(human)
ClinVar
MouseDO
PMID:18414213 PMID:25741868 PMID:28492532 PMID:32581362, PMID:26436113 RGD:13450906 NCBI chr 5:86,387,238...86,554,108
Ensembl chr 5:86,387,078...86,554,102
JBrowse link
G Cdon cell adhesion associated, oncogene regulated ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr 8:36,625,757...36,712,091
Ensembl chr 8:36,625,733...36,710,949
JBrowse link
G Cenpf centromere protein F ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr13:108,132,499...108,178,609
Ensembl chr13:108,132,499...108,178,609
JBrowse link
G Cenpj centromere protein J ISO ClinVar Annotator: match by term: Primary Microcephaly, Recessive ClinVar PMID:18414213 PMID:25741868 NCBI chr15:36,745,672...36,809,228
Ensembl chr15:36,746,088...36,798,814
JBrowse link
G Cep152 centrosomal protein 152 ISO ClinVar Annotator: match by term: Primary Microcephaly, Recessive ClinVar NCBI chr 3:117,822,799...117,894,856 JBrowse link
G Cep290 centrosomal protein 290 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:28492532 NCBI chr 7:40,217,269...40,306,327
Ensembl chr 7:40,217,269...40,306,327
JBrowse link
G Cep63 centrosomal protein 63 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21983783 NCBI chr 8:111,063,988...111,116,014
Ensembl chr 8:111,064,049...111,116,014
JBrowse link
G Cep85l centrosomal protein 85-like ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:24824130 NCBI chr20:34,574,043...34,743,142
Ensembl chr20:34,575,950...34,684,418
JBrowse link
G Cert1 ceramide transporter 1 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr 2:27,365,145...27,469,797
Ensembl chr 2:27,365,148...27,469,779
JBrowse link
G Chd2 chromodomain helicase DNA binding protein 2 ISO ClinVar Annotator: match by term: Microcephaly ClinVar NCBI chr 1:134,757,934...134,873,053
Ensembl chr 1:134,757,934...134,871,167
JBrowse link
G Chd7 chromodomain helicase DNA binding protein 7 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr 5:21,769,087...21,952,036
Ensembl chr 5:21,830,882...21,950,696
JBrowse link
G Cit citron rho-interacting serine/threonine kinase IAGP RGD PMID:10219263 RGD:13204836 NCBI chr12:46,334,669...46,494,152
Ensembl chr12:46,334,665...46,494,174
JBrowse link
G CitfhJjlo citron rho-interacting serine/threonine kinase; flat head mutant, Jjlo IAGP RGD PMID:10219263 RGD:13204836
G Clcn4 chloride voltage-gated channel 4 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:28492532 NCBI chr  X:25,016,177...25,082,563
Ensembl chr  X:25,016,401...25,080,410
JBrowse link
G Col4a1 collagen type IV alpha 1 chain ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr16:83,522,162...83,632,153
Ensembl chr16:83,522,162...83,632,153
JBrowse link
G Col7a1 collagen type VII alpha 1 chain ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:12787275 PMID:22266148 PMID:25741868 PMID:28492532 PMID:28830826 PMID:32860008 NCBI chr 8:117,694,441...117,726,844
Ensembl chr 8:117,694,605...117,726,844
JBrowse link
G Copb2 COPI coat complex subunit beta 2 ISS OMIM:251200 | OMIM:604321 | OMIM:604804 | OMIM:608393 | OMIM:608716 | OMIM:612703 MouseDO NCBI chr 8:106,582,339...106,603,763 JBrowse link
G Cpt2 carnitine palmitoyltransferase 2 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr 5:127,505,646...127,523,016
Ensembl chr 5:127,505,614...127,523,089
JBrowse link
G Cspp1 centrosome and spindle pole associated protein 1 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:28492532 NCBI chr 5:8,761,293...8,876,205
Ensembl chr 5:8,761,293...8,864,578
JBrowse link
G Cstb cystatin B ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:8596935 PMID:9012407 PMID:9054946 PMID:9360639 PMID:17003839 PMID:23205931 PMID:25741868 PMID:26467025 PMID:28492532 PMID:32581362 NCBI chr20:10,966,357...10,968,399
Ensembl chr20:10,966,331...10,968,432
JBrowse link
G Ctbp1 C-terminal binding protein 1 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr14:82,762,109...82,789,350
Ensembl chr14:82,762,190...82,789,319
JBrowse link
G Dcbld1 discoidin, CUB and LCCL domain containing 1 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:24824130 NCBI chr20:33,359,062...33,455,161
Ensembl chr20:33,359,196...33,453,766
JBrowse link
G Ddx11 DEAD/H-box helicase 11 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr 9:114,113,642...114,133,908
Ensembl chr 9:114,111,580...114,132,492
JBrowse link
G Dhcr7 7-dehydrocholesterol reductase ISO ClinVar Annotator: match by term: Congenital microcephaly
ClinVar Annotator: match by term: Microcephaly
ClinVar PMID:9653161 PMID:10602371 PMID:10677299 PMID:10814720 PMID:10995508 PMID:11078571 PMID:11175299 PMID:15521979 PMID:15670717 PMID:15805162 PMID:15952211 PMID:16044199 PMID:16207203 PMID:16497572 PMID:16983147 PMID:17441222 PMID:17965227 PMID:18006960 PMID:19390132 PMID:20301322 PMID:20556518 PMID:21696385 PMID:23042628 PMID:23293579 PMID:24033266 PMID:25040602 PMID:25741868 PMID:28492532 PMID:33223529 NCBI chr 1:217,018,916...217,034,890
Ensembl chr 1:217,018,916...217,034,904
JBrowse link
G Diaph1 diaphanous-related formin 1 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:28492532 NCBI chr18:30,972,907...31,071,371
Ensembl chr18:30,972,907...31,071,371
JBrowse link
G Dna2 DNA replication helicase/nuclease 2 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868
G Dnm1l dynamin 1-like ISO CTD Direct Evidence: marker/mechanism CTD PMID:17460227 NCBI chr11:88,830,968...88,882,271
Ensembl chr11:88,830,957...88,880,198
JBrowse link
G Dnmt3a DNA methyltransferase 3 alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:30478443 NCBI chr 6:28,205,375...28,346,052
Ensembl chr 6:28,235,695...28,340,577
JBrowse link
G Dock6 dedicator of cytokinesis 6 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr 8:22,822,412...22,874,670
Ensembl chr 8:22,822,412...22,874,645
JBrowse link
G Donson DNA replication fork stabilization factor DONSON ISO CTD Direct Evidence: marker/mechanism CTD PMID:28191891 NCBI chr11:31,834,608...31,847,751
Ensembl chr11:31,837,839...31,847,490
JBrowse link
G Dse dermatan sulfate epimerase ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:24824130 NCBI chr20:27,703,738...27,784,982
Ensembl chr20:27,703,732...27,782,586
JBrowse link
G Dync1h1 dynein cytoplasmic 1 heavy chain 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23603762 NCBI chr 6:134,958,854...135,085,769
Ensembl chr 6:134,958,854...135,085,769
JBrowse link
G Dyrk1a dual specificity tyrosine phosphorylation regulated kinase 1A ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25167861 PMID:25326635 PMID:25641759 PMID:25741868 PMID:25920557 PMID:25944381 PMID:28492532 PMID:32581362 NCBI chr11:34,858,339...34,958,733
Ensembl chr11:34,865,532...34,956,536
JBrowse link
G Eif2b1 eukaryotic translation initiation factor 2B subunit alpha ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr12:37,444,136...37,452,391
Ensembl chr12:37,444,072...37,465,398
JBrowse link
G Elac2 elaC ribonuclease Z 2 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr10:51,478,378...51,501,167
Ensembl chr10:51,478,378...51,501,165
JBrowse link
G Emc1 ER membrane protein complex subunit 1 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr 5:157,820,908...157,846,226
Ensembl chr 5:157,820,908...157,846,226
JBrowse link
G Ep300 E1A binding protein p300 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr 7:122,818,194...122,889,055
Ensembl chr 7:122,818,975...122,861,296
JBrowse link
G Epg5 ectopic P-granules autophagy protein 5 homolog ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:28492532 NCBI chr18:74,299,965...74,397,115
Ensembl chr18:74,299,931...74,395,547
JBrowse link
G Epm2a EPM2A glucan phosphatase, laforin ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:28492532 NCBI chr 1:5,448,958...5,571,512
Ensembl chr 1:5,448,958...5,571,512
JBrowse link
G Ercc4 ERCC excision repair 4, endonuclease catalytic subunit ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr10:2,010,140...2,037,953
Ensembl chr10:2,010,648...2,037,891
JBrowse link
G Ercc6 ERCC excision repair 6, chromatin remodeling factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:10739753 PMID:18628313 NCBI chr16:8,734,028...8,804,610
Ensembl chr16:8,734,035...8,804,610
JBrowse link
G Ext1 exostosin glycosyltransferase 1 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:24728327 PMID:25741868 NCBI chr 7:92,605,008...92,881,392
Ensembl chr 7:92,605,728...92,882,068
JBrowse link
G F8 coagulation factor VIII ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr18:367,862...399,242
Ensembl chr18:367,862...399,242
JBrowse link
G Fam111a FAM111 trypsin like peptidase A ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:28492532 NCBI chr 1:229,003,778...229,019,532
Ensembl chr 1:229,003,961...229,019,527
JBrowse link
G Fam184a family with sequence similarity 184, member A ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:24824130 NCBI chr20:34,935,029...35,054,806
Ensembl chr20:34,936,050...35,054,881
JBrowse link
G Fanca FA complementation group A ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:26689913 PMID:28202063 PMID:28492532 PMID:30032139 NCBI chr19:56,067,548...56,126,075
Ensembl chr19:56,067,548...56,126,063
JBrowse link
G Fance FA complementation group E ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr20:7,888,927...7,906,142
Ensembl chr20:7,895,083...7,906,142
JBrowse link
G Fanci FA complementation group I ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:28492532 NCBI chr 1:141,116,565...141,172,997
Ensembl chr 1:141,120,166...141,172,483
JBrowse link
G Fat4 FAT atypical cadherin 4 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr 2:125,751,818...125,879,398
Ensembl chr 2:125,752,130...125,879,387
JBrowse link
G Fcna ficolin A ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr 3:2,850,006...2,853,230
Ensembl chr 3:2,849,984...2,853,272
JBrowse link
G Fgf8 fibroblast growth factor 8 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr 1:265,492,949...265,498,965
Ensembl chr 1:265,493,124...265,498,831
JBrowse link
G Fgfrl1 fibroblast growth factor receptor-like 1 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr14:2,020,110...2,032,169
Ensembl chr14:2,018,500...2,032,593
JBrowse link
G Fh fumarate hydratase ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:28492532 PMID:30548481 NCBI chr13:93,651,486...93,677,371
Ensembl chr13:93,651,484...93,677,377
JBrowse link
G Flna filamin A ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:28492532 NCBI chr  X:156,460,785...156,487,245
Ensembl chr  X:156,463,953...156,487,245
JBrowse link
G Foxg1 forkhead box G1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Congenital microcephaly
CTD
ClinVar
PMID:18627055 PMID:25741868 NCBI chr 6:69,971,227...69,974,037
Ensembl chr 6:69,971,227...69,974,037
JBrowse link
G Fras1 Fraser extracellular matrix complex subunit 1 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:28492532 NCBI chr14:14,438,392...14,853,016
Ensembl chr14:14,439,082...14,689,554
JBrowse link
G Frem1 Fras1 related extracellular matrix 1 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr 5:101,018,009...101,166,794
Ensembl chr 5:101,020,448...101,166,651
JBrowse link
G Frem2 FRAS1 related extracellular matrix 2 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:28492532 NCBI chr 2:142,747,501...142,885,604
Ensembl chr 2:142,747,501...142,885,604
JBrowse link
G Frmd4a FERM domain containing 4A ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr17:77,642,302...77,918,210 JBrowse link
G Gata4 GATA binding protein 4 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:18672102 PMID:19302747 PMID:19678963 PMID:21110066 PMID:21519287 PMID:24033266 PMID:25741868 PMID:26490186 PMID:26997702 PMID:28492532 NCBI chr15:46,386,703...46,458,679
Ensembl chr15:46,386,712...46,432,965
JBrowse link
G Gatad1 GATA zinc finger domain containing 1 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:28492532 NCBI chr 4:27,647,005...27,658,533
Ensembl chr 4:27,647,335...27,657,167
JBrowse link
G Gli2 GLI family zinc finger 2 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr13:34,829,021...35,049,172
Ensembl chr13:34,829,139...35,048,444
JBrowse link
G Gnao1 G protein subunit alpha o1 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:23993195 PMID:25741868 PMID:25966631 PMID:26060304 PMID:27072799 PMID:28202424 PMID:28492532 PMID:28747448 NCBI chr19:11,513,201...11,669,578
Ensembl chr19:11,513,201...11,669,578
JBrowse link
G Gnb1 G protein subunit beta 1 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:27108799 PMID:30194818 PMID:31735425 NCBI chr 5:172,914,025...172,981,403
Ensembl chr 5:172,934,990...172,979,986
JBrowse link
G Gopc golgi associated PDZ and coiled-coil motif containing ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:24824130 NCBI chr20:33,471,355...33,521,281
Ensembl chr20:33,471,351...33,521,311
JBrowse link
G Gprc6a G protein-coupled receptor, class C, group 6, member A ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:24824130 NCBI chr20:32,607,653...32,628,953
Ensembl chr20:32,607,653...32,628,953
JBrowse link
G Grin2a glutamate ionotropic receptor NMDA type subunit 2A ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr10:5,707,806...6,123,568
Ensembl chr10:5,930,298...6,119,990
JBrowse link
G Grip1 glutamate receptor interacting protein 1 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr 7:64,672,723...64,854,939
Ensembl chr 7:64,672,722...64,864,404
JBrowse link
G H4c3 H4 clustered histone 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28920961 NCBI chr 4:170,144,871...170,145,311
Ensembl chr 4:170,144,951...170,145,262
JBrowse link
G Hdac4 histone deacetylase 4 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr 9:99,052,945...99,299,715
Ensembl chr 9:99,057,089...99,299,715
JBrowse link
G Hprt1 hypoxanthine phosphoribosyltransferase 1 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:2323782 PMID:17027311 PMID:23975452 PMID:25481104 PMID:25741868 PMID:28492532 NCBI chr  X:158,196,640...158,228,815
Ensembl chr  X:158,197,149...158,228,749
JBrowse link
G Hspg2 heparan sulfate proteoglycan 2 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:28492532 NCBI chr 5:155,812,096...155,913,751 JBrowse link
G Iba57 iron-sulfur cluster assembly factor IBA57 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr10:45,506,124...45,514,909
Ensembl chr10:45,504,504...45,514,878
JBrowse link
G Ift122 intraflagellar transport 122 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:28492532 NCBI chr 4:147,756,574...147,826,983
Ensembl chr 4:147,756,553...147,826,997
JBrowse link
G Ift140 intraflagellar transport 140 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:28492532 NCBI chr10:14,373,668...14,461,509
Ensembl chr10:14,373,679...14,461,160
JBrowse link
G Ift74 intraflagellar transport 74 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr 5:113,579,065...113,682,485
Ensembl chr 5:113,592,919...113,682,484
JBrowse link
G Igf1 insulin-like growth factor 1 ISO DNA:nonsense mutation,haploinsufficiency :cds:
ClinVar Annotator: match by term: Microcephaly
ClinVar PMID:25741868, PMID:20668042 RGD:8548823 NCBI chr 7:28,412,123...28,491,815
Ensembl chr 7:28,412,198...28,486,609
JBrowse link
G Inca1 inhibitor of CDK, cyclin A1 interacting protein 1 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:28492532 NCBI chr10:57,309,722...57,322,140
Ensembl chr10:57,309,972...57,317,985
JBrowse link
G Iqsec2 IQ motif and Sec7 domain ArfGEF 2 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr  X:22,212,137...22,293,810
Ensembl chr  X:22,212,132...22,294,402
JBrowse link
G Itgb6 integrin subunit beta 6 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr 3:46,652,624...46,775,362
Ensembl chr 3:46,652,623...46,726,958
JBrowse link
G Jarid2 jumonji and AT-rich interaction domain containing 2 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr17:20,183,440...20,365,219
Ensembl chr17:20,184,245...20,364,714
JBrowse link
G Kif11 kinesin family member 11 ISO ClinVar Annotator: match by term: Microcephaly ClinVar NCBI chr 1:256,035,866...256,088,299
Ensembl chr 1:256,035,866...256,088,299
JBrowse link
G Kif1c kinesin family member 1C ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:28492532 NCBI chr10:57,322,259...57,352,395
Ensembl chr10:57,322,331...57,351,353
JBrowse link
G Kif20b kinesin family member 20B ISS OMIM:251200 | OMIM:604321 | OMIM:604804 | OMIM:608393 | OMIM:608716 | OMIM:612703 MouseDO NCBI chr 1:253,220,038...253,275,523
Ensembl chr 1:253,221,812...253,275,490
JBrowse link
G Kif23 kinesin family member 23 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:26539891 NCBI chr 8:66,866,043...66,893,241
Ensembl chr 8:66,866,082...66,893,196
JBrowse link
G Kif26b kinesin family member 26B ISO ClinVar Annotator: match by term: Microcephaly ClinVar NCBI chr13:96,775,356...97,173,469
Ensembl chr13:96,775,357...97,173,469
JBrowse link
G Kif2a kinesin family member 2A ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Microcephaly
CTD
ClinVar
PMID:23603762 PMID:25741868 NCBI chr 2:38,145,507...38,208,765
Ensembl chr 2:38,147,601...38,208,719
JBrowse link
G Kif5c kinesin family member 5C ISO CTD Direct Evidence: marker/mechanism CTD PMID:23603762 NCBI chr 3:35,014,157...35,257,417
Ensembl chr 3:35,014,538...35,257,407
JBrowse link
G Kifbp kinesin family binding protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:15883926 NCBI chr20:32,191,731...32,211,295
Ensembl chr20:32,191,734...32,211,453
JBrowse link
G Kmt2a lysine methyltransferase 2A ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr 8:49,110,407...49,185,872
Ensembl chr 8:49,114,990...49,158,971
JBrowse link
G Kmt2c lysine methyltransferase 2C ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr 4:82,506...109,986
NCBI chr 4:6,083,650...6,294,413
Ensembl chr 4:6,083,736...6,292,516
JBrowse link
G Kmt2d lysine methyltransferase 2D ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr 7:140,507,137...140,542,479
Ensembl chr 7:140,489,492...140,546,908
JBrowse link
G Kpna5 karyopherin subunit alpha 5 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:24824130 NCBI chr20:32,509,573...32,573,591
Ensembl chr20:32,509,598...32,572,250
JBrowse link
G Lars1 leucyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:28492532 NCBI chr18:36,524,013...36,579,471
Ensembl chr18:36,524,007...36,579,403
JBrowse link
G Ldlrad2 low density lipoprotein receptor class A domain containing 2 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr 5:155,914,517...155,922,269
Ensembl chr 5:155,914,735...155,916,893
JBrowse link
G Lins1 lines homolog 1 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr 1:127,599,647...127,625,583
Ensembl chr 1:127,604,197...127,625,577
JBrowse link
G Lmnb1 lamin B1 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr18:51,785,111...51,822,264
Ensembl chr18:51,785,111...51,822,264
JBrowse link
G LOC100911204 protein CASC5-like ISO ClinVar Annotator: match by term: Primary Microcephaly, Recessive ClinVar PMID:18414213 PMID:25741868 PMID:28492532 NCBI chr 3:112,531,429...112,560,698
Ensembl chr 3:112,531,703...112,560,634
JBrowse link
G Lrp5 LDL receptor related protein 5 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:28492532 NCBI chr 1:218,816,833...218,920,147
Ensembl chr 1:218,816,841...218,920,094
JBrowse link
G Mak16 MAK16 homolog ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr16:64,729,254...64,737,807
Ensembl chr16:64,729,221...64,737,807
JBrowse link
G Man1a1 mannosidase, alpha, class 1A, member 1 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:24824130 NCBI chr20:35,257,688...35,450,132
Ensembl chr20:35,257,985...35,450,513
JBrowse link
G Masp1 MBL associated serine protease 1 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr11:80,736,424...80,806,278
Ensembl chr11:80,736,576...80,803,382
JBrowse link
G Mbd5 methyl-CpG binding domain protein 5 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr 3:33,364,812...33,504,144
Ensembl chr 3:33,440,191...33,504,238
JBrowse link
G Mcm4 minichromosome maintenance complex component 4 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr11:89,511,191...89,524,892
Ensembl chr11:89,511,191...89,524,892
JBrowse link
G Mcm9 minichromosome maintenance 9 homologous recombination repair factor ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:24824130 NCBI chr20:34,818,093...34,930,157
Ensembl chr20:34,846,804...34,929,965
JBrowse link
G Mcph1 microcephalin 1 no_association ISO
ISS
DNA:nonsense mutation:cds:p.S25X (human)
ClinVar Annotator: match by term: Microcephaly
OMIM:251200 | OMIM:604321 | OMIM:604804 | OMIM:608393 | OMIM:608716 | OMIM:612703
DNA:SNP: :c.940G>C (g.37995G>C) (human)
ClinVar Annotator: match by term: Primary Microcephaly, Recessive
ClinVar
MouseDO
PMID:25741868, PMID:12046007, PMID:23683352, PMID:19267414 RGD:9589021, RGD:13204745, RGD:13204744 NCBI chr16:75,904,087...76,110,624
Ensembl chr16:75,904,006...76,110,553
JBrowse link
G Mecp2 methyl CpG binding protein 2 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:11007980 PMID:11071498 PMID:11309367 PMID:11772708 PMID:11805248 PMID:11885030 PMID:12325019 PMID:12843318 PMID:14598336 PMID:20301670 PMID:21831886 PMID:24328834 PMID:25473036 PMID:25741868 PMID:26350204 PMID:26418480 PMID:27465203 PMID:27929079 PMID:28492532 PMID:32581362 NCBI chr  X:156,650,389...156,713,813
Ensembl chr  X:156,655,960...156,705,233
JBrowse link
G Med17 mediator complex subunit 17 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:28492532 NCBI chr 8:13,522,257...13,835,302
Ensembl chr 8:13,819,563...13,835,168
JBrowse link
G Mfn2 mitofusin 2 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:15064763 PMID:16437557 PMID:16714318 PMID:16835246 PMID:17296794 PMID:19889647 PMID:21285398 PMID:22442078 PMID:24126688 PMID:24604904 PMID:24862862 PMID:24863639 PMID:25025039 PMID:25741868 PMID:26085578 PMID:26382835 PMID:26467025 PMID:26686600 PMID:26801520 PMID:27549087 PMID:27863451 PMID:28492532 PMID:31188717 NCBI chr 5:164,684,244...164,715,414
Ensembl chr 5:164,684,509...164,714,145
JBrowse link
G Mfsd2a major facilitator superfamily domain containing 2A ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Microcephaly
CTD
ClinVar
PMID:25741868 PMID:26005865 PMID:26005868 NCBI chr 5:140,642,865...140,657,759
Ensembl chr 5:140,642,885...140,657,745
JBrowse link
G Mipep mitochondrial intermediate peptidase ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr15:41,084,180...41,192,621
Ensembl chr15:41,084,206...41,190,005
JBrowse link
G Mks1 MKS transition zone complex subunit 1 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:24608809 PMID:25741868 PMID:28492532 NCBI chr10:75,149,814...75,160,481
Ensembl chr10:75,149,814...75,160,480
JBrowse link
G Mmaa metabolism of cobalamin associated A ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:28492532 NCBI chr19:32,294,087...32,325,927
Ensembl chr19:32,308,236...32,325,927
JBrowse link
G Mtfmt mitochondrial methionyl-tRNA formyltransferase ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr 8:70,952,209...70,986,393
Ensembl chr 8:70,952,203...70,986,408
JBrowse link
G Nacc1 nucleus accumbens associated 1 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr19:25,783,686...25,801,526
Ensembl chr19:25,783,900...25,801,526
JBrowse link
G Nat8l N-acetyltransferase 8-like ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr14:82,041,616...82,048,251
Ensembl chr14:82,041,616...82,048,251
JBrowse link
G Nbn nibrin ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:9590180 PMID:9620777 PMID:10398434 PMID:10852373 PMID:11093281 PMID:11279524 PMID:11953735 PMID:12123493 PMID:12505263 PMID:12833396 PMID:14973119 PMID:15185344 PMID:16033915 PMID:16544999 PMID:17103455 PMID:18606567 PMID:18940477 PMID:19635536 PMID:19908051 PMID:20444919 PMID:22131123 PMID:22293976 PMID:22941933 PMID:23317186 PMID:23765759 PMID:24033266 PMID:24113799 PMID:25186627 PMID:25485873 PMID:25741868 PMID:25980754 PMID:26083025 PMID:26467025 PMID:26681312 PMID:26822949 PMID:26845104 PMID:27150568 PMID:27616075 PMID:28492532 PMID:31173646 PMID:32295079 NCBI chr 5:29,622,347...29,656,877
Ensembl chr 5:29,622,281...29,656,864
JBrowse link
G Nf1 neurofibromin 1 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:28492532 PMID:30308447 NCBI chr10:66,732,460...66,928,706
Ensembl chr10:66,690,133...66,928,903
JBrowse link
G Nsd1 nuclear receptor binding SET domain protein 1 ISO associated with Growth Disorders;DNA:duplications:multiple (human)
ClinVar Annotator: match by term: Microcephaly
ClinVar PMID:25741868, PMID:23599694 RGD:9590157 NCBI chr17:9,840,859...9,955,391
Ensembl chr17:9,844,133...9,952,898
JBrowse link
G Nt5c2 5'-nucleotidase, cytosolic II ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:28492532 NCBI chr 1:266,652,966...266,782,935
Ensembl chr 1:266,659,519...266,782,910
JBrowse link
G Nup214 nucleoporin 214 ISO ClinVar Annotator: match by term: Progressive microcephaly ClinVar PMID:31178128 NCBI chr 3:9,227,869...9,236,878
NCBI chr 3:10,993,584...11,070,638
Ensembl chr 3:9,227,823...9,236,736
Ensembl chr 3:9,227,823...9,236,736
JBrowse link
G Nus1 NUS1 dehydrodolichyl diphosphate synthase subunit ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:24824130 PMID:25741868 NCBI chr20:33,557,052...33,584,011
Ensembl chr20:33,557,052...33,584,010
JBrowse link
G Orc1 origin recognition complex, subunit 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21358633 NCBI chr 5:128,186,651...128,212,901
Ensembl chr 5:128,190,708...128,210,445
JBrowse link
G Otx2 orthodenticle homeobox 2 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr15:25,500,037...25,511,619
Ensembl chr15:25,502,019...25,505,691
JBrowse link
G Pak3 p21 (RAC1) activated kinase 3 ISO ClinVar Annotator: match by term: Microcephaly ClinVar NCBI chr  X:114,784,452...115,042,683
Ensembl chr  X:114,929,029...115,036,669
JBrowse link
G Pclo piccolo (presynaptic cytomatrix protein) ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr 4:16,454,904...17,058,921
Ensembl chr 4:16,454,904...17,058,921
JBrowse link
G Pcnt pericentrin ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr20:12,943,523...13,038,615
Ensembl chr20:12,944,786...13,038,431
JBrowse link
G Pdgfrb platelet derived growth factor receptor beta ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr18:56,364,586...56,406,381
Ensembl chr18:56,364,620...56,406,381
JBrowse link
G Pex1 peroxisomal biogenesis factor 1 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:28492532 NCBI chr 4:27,659,376...27,698,037
Ensembl chr 4:27,659,381...27,698,037
JBrowse link
G Pex16 peroxisomal biogenesis factor 16 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:28492532 NCBI chr 3:81,283,137...81,292,575
Ensembl chr 3:81,283,137...81,292,573
JBrowse link
G Pex5 peroxisomal biogenesis factor 5 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:28492532 NCBI chr 4:156,983,914...157,009,675
Ensembl chr 4:156,983,915...157,009,674
JBrowse link
G Plekhg2 pleckstrin homology and RhoGEF domain containing G2 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr 1:85,386,492...85,399,699
Ensembl chr 1:85,386,470...85,399,699
JBrowse link
G Plk4 polo-like kinase 4 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Microcephaly
CTD
ClinVar
PMID:25344692 PMID:25741868 NCBI chr 2:127,686,911...127,705,518
Ensembl chr 2:127,686,925...127,705,518
JBrowse link
G Pln phospholamban ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:24824130 NCBI chr20:34,633,157...34,642,904
Ensembl chr20:34,633,157...34,642,904
JBrowse link
G Pnkp polynucleotide kinase 3'-phosphatase ISO CTD Direct Evidence: marker/mechanism CTD PMID:20118933 NCBI chr 1:100,853,475...100,859,202
Ensembl chr 1:100,853,902...100,859,084
JBrowse link
G Poc1a POC1 centriolar protein A ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr 8:114,982,764...115,050,844
Ensembl chr 8:114,986,326...115,050,728
JBrowse link
G Polg DNA polymerase gamma, catalytic subunit ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr 1:141,172,117...141,188,893
Ensembl chr 1:141,172,531...141,188,031
JBrowse link
G Pqbp1 polyglutamine binding protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:14634649 PMID:15024694 PMID:16740914 NCBI chr  X:15,448,570...15,453,130
Ensembl chr  X:15,348,138...15,453,130
JBrowse link
G Prdm16 PR/SET domain 16 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:28492532 NCBI chr 5:171,662,277...171,711,561
Ensembl chr 5:171,662,277...171,710,316
JBrowse link
G Prkdc protein kinase, DNA-activated, catalytic subunit ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr11:89,293,547...89,510,948
Ensembl chr11:89,293,696...89,510,871
JBrowse link
G Psat1 phosphoserine aminotransferase 1 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:32077105 NCBI chr 1:233,124,089...233,145,941
Ensembl chr 1:233,124,092...233,145,941
JBrowse link
G Ptdss1 phosphatidylserine synthase 1 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr 7:71,294,140...71,356,153
Ensembl chr 7:71,293,388...71,356,153
JBrowse link
G Ptpn11 protein tyrosine phosphatase, non-receptor type 11 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:11992261 PMID:14644997 PMID:15539800 PMID:15987685 PMID:16358218 PMID:17020470 PMID:17339163 PMID:17361219 PMID:18372317 PMID:19020799 PMID:19737548 PMID:20308328 PMID:21706501 PMID:21901340 PMID:22315187 PMID:23584145 PMID:24033266 PMID:24628801 PMID:25585602 PMID:25741868 PMID:28363362 PMID:28492532 PMID:30311386 PMID:32581362 NCBI chr12:40,895,515...40,955,999
Ensembl chr12:40,895,515...40,955,999
JBrowse link
G Pycr1 pyrroline-5-carboxylate reductase 1 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:21739576 PMID:24913064 PMID:25741868 NCBI chr10:109,817,300...109,822,218
Ensembl chr10:109,818,177...109,821,807
JBrowse link
G Pycr2 pyrroline-5-carboxylate reductase 2 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr13:99,184,624...99,188,418
Ensembl chr13:99,184,564...99,188,431
JBrowse link
G Qars1 glutaminyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:28492532 NCBI chr 8:117,297,670...117,305,708
Ensembl chr 8:117,297,670...117,305,702
JBrowse link
G Rab3gap2 RAB3 GTPase activating non-catalytic protein subunit 2 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr13:103,157,806...103,229,010
Ensembl chr13:103,157,806...103,228,423
JBrowse link
G Rad51c RAD51 paralog C ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:28492532 PMID:32566746 NCBI chr10:74,697,713...74,724,004
Ensembl chr10:74,697,716...74,724,472
JBrowse link
G Rag1 recombination activating 1 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr 3:91,206,394...91,217,491
Ensembl chr 3:91,206,394...91,217,491
JBrowse link
G Rbbp8 RB binding protein 8, endonuclease ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr18:3,134,630...3,227,702
Ensembl chr18:3,162,543...3,227,688
JBrowse link
G Rbm10 RNA binding motif protein 10 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr  X:1,754,869...1,786,973
Ensembl chr  X:1,754,861...1,786,978
JBrowse link
G Rbm28 RNA binding motif protein 28 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr 4:56,398,769...56,438,442
Ensembl chr 4:56,398,769...56,438,465
JBrowse link
G Ret ret proto-oncogene ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:28492532 NCBI chr 4:150,202,170...150,249,196
Ensembl chr 4:150,202,058...150,244,372
JBrowse link
G Rfx6 regulatory factor X, 6 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:24824130 NCBI chr20:32,709,282...32,764,040
Ensembl chr20:32,717,564...32,764,035
JBrowse link
G Rfx7 regulatory factor X, 7 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr 8:79,159,297...79,279,962
Ensembl chr 8:79,159,370...79,279,962
JBrowse link
G Rnf17 ring finger protein 17 ISO ClinVar Annotator: match by term: Primary Microcephaly, Recessive ClinVar NCBI chr15:36,609,348...36,744,750
Ensembl chr15:36,609,296...36,744,762
JBrowse link
G Ros1 ROS proto-oncogene 1 , receptor tyrosine kinase ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:24824130 NCBI chr20:33,100,190...33,323,544
Ensembl chr20:33,100,191...33,323,367
JBrowse link
G Rpgrip1 RPGR interacting protein 1 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr15:28,521,287...28,575,046
Ensembl chr15:28,522,737...28,574,737
JBrowse link
G Rpgrip1l Rpgrip1-like ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr19:17,115,266...17,208,055
Ensembl chr19:17,115,412...17,208,055
JBrowse link
G Rreb1 ras responsive element binding protein 1 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:28492532 NCBI chr17:27,539,137...27,718,878
Ensembl chr17:27,539,133...27,665,266
JBrowse link
G Rsph4a radial spoke head component 4A ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:24824130 NCBI chr20:32,450,701...32,467,362
Ensembl chr20:32,450,733...32,467,194
Ensembl chr20:32,450,733...32,467,194
JBrowse link
G Rtel1 regulator of telomere elongation helicase 1 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr 3:176,818,012...176,856,531
Ensembl chr 3:176,818,437...176,856,531
JBrowse link
G Rttn rotatin ISO ClinVar Annotator: match by term: Congenital microcephaly
ClinVar Annotator: match by term: Microcephaly
ClinVar PMID:25741868 PMID:26608784 NCBI chr18:86,071,884...86,247,486
Ensembl chr18:86,071,662...86,247,486
JBrowse link
G Rwdd1 RWD domain containing 1 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:24824130 NCBI chr20:27,534,361...27,552,225
Ensembl chr20:27,535,324...27,552,349
JBrowse link
G Sall1 spalt-like transcription factor 1 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr19:23,387,737...23,405,025
Ensembl chr19:23,389,375...23,405,039
JBrowse link
G Sbf1 SET binding factor 1 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:23749797 PMID:25741868 NCBI chr 7:130,261,552...130,288,566
Ensembl chr 7:130,261,552...130,288,509
JBrowse link
G Scamp4 secretory carrier membrane protein 4 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr 7:11,969,720...11,982,141
Ensembl chr 7:11,969,720...11,982,141
JBrowse link
G Scarf2 scavenger receptor class F, member 2 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr11:87,722,350...87,733,734
Ensembl chr11:87,722,350...87,733,734
JBrowse link
G Scn1a sodium voltage-gated channel alpha subunit 1 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr 3:52,388,811...52,533,365
Ensembl chr 3:52,381,975...52,510,507
JBrowse link
G Scn4a sodium voltage-gated channel alpha subunit 4 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:28492532 NCBI chr10:94,505,026...94,557,803
Ensembl chr10:94,505,026...94,557,764
JBrowse link
G Scn9a sodium voltage-gated channel alpha subunit 9 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr 3:52,583,953...52,664,209
Ensembl chr 3:52,583,951...52,664,209
JBrowse link
G Scrib scribble planar cell polarity protein ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr 7:117,105,810...117,128,802
Ensembl chr 7:117,105,810...117,128,798
JBrowse link
G Sdhd succinate dehydrogenase complex subunit D ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:28492532 NCBI chr 8:55,028,125...55,037,604
Ensembl chr 8:55,028,125...55,037,604
JBrowse link
G Sec24c SEC24 homolog C, COPII coat complex component ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr15:4,035,196...4,057,209
Ensembl chr15:4,035,196...4,057,157
JBrowse link
G Setd5 SET domain containing 5 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:28492532 NCBI chr 4:145,017,549...145,095,247
Ensembl chr 4:145,017,608...145,095,245
JBrowse link
G Sim1 SIM bHLH transcription factor 1 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr20:55,590,810...55,674,002
Ensembl chr20:55,594,676...55,673,995
JBrowse link
G Sin3a SIN3 transcription regulator family member A ISO CTD Direct Evidence: marker/mechanism CTD PMID:27399968 NCBI chr 8:61,748,590...61,803,314
Ensembl chr 8:61,762,768...61,803,099
JBrowse link
G Slc12a5 solute carrier family 12 member 5 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:28492532 NCBI chr 3:161,433,303...161,465,078
Ensembl chr 3:161,425,988...161,462,879
JBrowse link
G Slc13a5 solute carrier family 13 member 5 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:28492532 NCBI chr10:58,806,581...58,835,549
Ensembl chr10:58,810,058...58,834,538
JBrowse link
G Slc1a4 solute carrier family 1 member 4 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr14:104,582,884...104,612,417
Ensembl chr14:104,581,190...104,612,597
JBrowse link
G Slc25a19 solute carrier family 25 member 19 ISO Microcephaly, Amish type, OMIM:607196;DNA:point mutation:exon:G177A RGD PMID:12185364 RGD:1624242 NCBI chr10:104,166,594...104,179,523
Ensembl chr10:104,166,598...104,179,523
JBrowse link
G Slc2a1 solute carrier family 2 member 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Microcephaly
CTD
ClinVar
PMID:9462754 PMID:10980529 PMID:25741868 PMID:32581362 NCBI chr 5:138,154,677...138,182,897
Ensembl chr 5:138,154,673...138,182,897
JBrowse link
G Slc35f1 solute carrier family 35, member F1 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:24824130 NCBI chr20:33,772,314...34,420,970
Ensembl chr20:34,258,791...34,420,824
JBrowse link
G Slx4 SLX4 structure-specific endonuclease subunit ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr10:11,787,756...11,808,326
Ensembl chr10:11,786,121...11,807,928
JBrowse link
G Smarca2 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr 1:244,615,811...244,783,736
Ensembl chr 1:244,615,821...244,782,706
JBrowse link
G Smarca4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:28492532 NCBI chr 8:22,648,323...22,739,468
Ensembl chr 8:22,648,323...22,739,468
JBrowse link
G Smc1a structural maintenance of chromosomes 1A ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:16604071 PMID:17273969 PMID:24124034 PMID:25125236 PMID:25741868 PMID:28425213 PMID:28492532 NCBI chr  X:21,710,976...21,755,708
Ensembl chr  X:21,711,019...21,755,525
JBrowse link
G Smo smoothened, frizzled class receptor ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr 4:57,019,941...57,041,779
Ensembl chr 4:57,019,941...57,042,770
JBrowse link
G Spock1 sparc/osteonectin, cwcv and kazal like domains proteoglycan 1 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr17:7,675,531...7,797,863
Ensembl chr17:7,675,531...7,797,863
JBrowse link
G Sptan1 spectrin, alpha, non-erythrocytic 1 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:28492532 NCBI chr 3:8,534,437...8,599,259
Ensembl chr 3:8,534,440...8,599,260
JBrowse link
G Sptlc1 serine palmitoyltransferase, long chain base subunit 1 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr17:11,856,525...11,895,566
Ensembl chr17:11,856,525...11,895,566
JBrowse link
G Srcap Snf2-related CREBBP activator protein ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr 1:198,957,764...199,007,576
Ensembl chr 1:198,960,542...199,007,347
JBrowse link
G Stambp Stam binding protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:23542699 NCBI chr 4:115,249,343...115,277,340
Ensembl chr 4:115,249,351...115,275,068
JBrowse link
G Stil STIL, centriolar assembly protein ISO ClinVar Annotator: match by term: Primary Microcephaly, Recessive ClinVar NCBI chr 5:133,819,302...133,851,362
Ensembl chr 5:133,819,726...133,851,416
JBrowse link
G Stt3a STT3 oligosaccharyltransferase complex catalytic subunit A ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr 8:39,204,218...39,243,751
Ensembl chr 8:39,181,163...39,243,882
JBrowse link
G Stxbp1 syntaxin binding protein 1 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr 3:11,823,779...11,885,479
Ensembl chr 3:11,823,785...11,885,417
JBrowse link
G Svbp small vasohibin binding protein ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:30607023 PMID:31363758 NCBI chr 5:138,245,639...138,251,353
Ensembl chr 5:138,245,639...138,251,353
JBrowse link
G Taf2 TATA-box binding protein associated factor 2 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr 7:94,698,987...94,755,924
Ensembl chr 7:94,698,987...94,755,924
JBrowse link
G Taf8 TATA-box binding protein associated factor 8 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:29648665 NCBI chr 9:15,513,048...15,532,992
Ensembl chr 9:15,513,063...15,529,800
JBrowse link
G Taldo1 transaldolase 1 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr 1:214,375,555...214,385,886
Ensembl chr 1:214,375,515...214,385,885
JBrowse link
G Tat tyrosine aminotransferase ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr19:41,675,639...41,686,195
Ensembl chr19:41,675,355...41,686,229
JBrowse link
G Tbc1d32 TBC1 domain family, member 32 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr20:37,463,879...37,701,268
Ensembl chr20:37,465,278...37,700,937
JBrowse link
G Tbcd tubulin folding cofactor D ISO CTD Direct Evidence: marker/mechanism CTD PMID:27666370 PMID:27666374 NCBI chr10:110,643,693...110,800,493
Ensembl chr10:110,643,759...110,800,493
JBrowse link
G Tbce tubulin folding cofactor E ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr17:53,983,126...54,029,028
Ensembl chr17:53,983,182...54,029,027
JBrowse link
G Tbl2 transducin (beta)-like 2 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr12:24,565,843...24,578,855
Ensembl chr12:24,565,849...24,578,786
JBrowse link
G Tbx2 T-box transcription factor 2 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr10:73,278,932...73,290,764
Ensembl chr10:73,279,119...73,289,921
JBrowse link
G Tcf4 transcription factor 4 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Microcephaly
CTD
ClinVar
PMID:18728071 PMID:21671391 PMID:22460224 PMID:25741868 PMID:28492532 PMID:28708303 PMID:29695756 PMID:32581362 NCBI chr18:65,285,320...65,507,983
Ensembl chr18:65,155,685...65,507,977
JBrowse link
G Tcof1 treacle ribosome biogenesis factor 1 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:28492532 NCBI chr18:56,081,863...56,115,719
Ensembl chr18:56,082,195...56,115,593
JBrowse link
G Tctn2 tectonic family member 2 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr12:37,400,896...37,427,256
Ensembl chr12:37,363,906...37,425,596
JBrowse link
G Tecpr2 tectonin beta-propeller repeat containing 2 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr 6:135,304,536...135,405,865
Ensembl chr 6:135,313,008...135,402,814
JBrowse link
G Telo2 telomere maintenance 2 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr10:14,461,581...14,476,812
Ensembl chr10:14,461,839...14,476,785
JBrowse link
G Tert telomerase reverse transcriptase ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr 1:32,250,876...32,275,330
Ensembl chr 1:32,251,714...32,272,476
JBrowse link
G Tfap2c transcription factor AP-2 gamma ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr 3:170,550,314...170,558,197
Ensembl chr 3:170,550,314...170,558,194
JBrowse link
G Tmem67 transmembrane protein 67 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr 5:25,666,138...25,721,056
Ensembl chr 5:25,666,137...25,721,072
JBrowse link
G Traip TRAF-interacting protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:26595769 NCBI chr 8:116,730,170...116,750,528
Ensembl chr 8:116,730,641...116,750,709
JBrowse link
G Trappc3l trafficking protein particle complex subunit 3L ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:24824130 NCBI chr20:27,578,268...27,664,689
Ensembl chr20:27,592,379...27,664,595
JBrowse link
G Trio trio Rho guanine nucleotide exchange factor ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:32581362 NCBI chr 2:80,471,398...80,769,313
Ensembl chr 2:80,473,202...80,667,481
JBrowse link
G Trps1 transcriptional repressor GATA binding 1 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr 7:90,085,895...90,320,430
Ensembl chr 7:90,090,828...90,318,221
JBrowse link